P28-A146†The impact of COVID-19 pandemic on eye banking in the Lublin Eye Bank, Poland.

PURPOSE: The purpose of this study was to investigate the impact of the COVID-19 pandemic on the Lublin Eye Bank activities. METHODS: We compared the corneal donors screening rules, number of harvested corneas before, during, and after the pandemic (2019, 2020, 2021, 2022 years). RESULTS: In 2019 we had 182 corneal donors and 360 harvested corneas; in 2020 - 114 donors and 227 corneas; in 2021 - 151 donors and 300 corneas, and in 2022 till the 15th November - 115 donors and 228 corneas. From the 11th March 2020, when the World Health Organization had declared a global pandemic, our Eye Bank ceased all activities until the 10th May 2020. We started then, according to recommendations of Polish Transplantation Society, performing a nasopharyngeal swabs specimen collecting for every corneal donor. In 2020 we noted only 1 positive donor, whereas in 2021 we had 9 and in 2022 - 12 SARS-CoV-2 positive donors, respectively. Overall mean reduction in the number of corneal donors and obtained corneal tissues of 6,3% was observed in the Lublin Eye Bank CONCLUSION: COVID-19 pandemic had an influence on the Lublin Eye Bank activities.Fortunately, the pandemic did not have a major impact on the number of donors as well as the corneas collected in our bank.

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria.

Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity and clinical course of the disease. The experience and approach to MMA treatment in European centers is variable with different amounts of natural protein and precursor-free l-amino acids being prescribed, although the outcome appears independent of the use of precursor-free l-amino acids. Further long-term outcome data is necessary for early treated patients with MMA. This case study, a woman with MMA followed from birth to the age of 35 years, including pregnancy, illustrates the long-term course of the disease and lifetime changes in dietary treatment. A low natural protein diet (1.5 g-1.0 g/kg/day) was the foundation of treatment, but temporary supplementation with precursor-free l-amino acids, vitamin-mineral mixture, and energy supplements were necessary at different timepoints (in childhood, adolescence, adulthood and pregnancy). Childhood psychomotor development was slightly delayed but within the normal range in adulthood. There were few episodes of metabolic decompensation requiring IV glucose, but at age 27 years, she required intensive care following steroid treatment. In pregnancy, she remained stable but received intensive biochemical and medical follow-up. This successful long-term follow-up of a patient with MMA from childhood, throughout pregnancy, delivery, and postpartum confirms that careful clinical, biochemical, and dietetic monitoring is crucial to ensure a favourable outcomes in MMA. Personalized treatment is necessary according to the individual clinical course. Knowledge about long-term treatment and clinical outcome is important information to influence future MMA clinical guidelines.

In vitro attenuation of astrocyte activation and neuroinflammation through ibuprofen-doping of poly(3,4-ethylenedioxypyrrole) formulations.

Neuroinflammation is often associated with poor functional recovery and may contribute to or initiate the development of severe neurological disorders, such as epilepsy, Parkinson's disease or Alzheimer's disease. Ibuprofen (IBU), being one of the most commonly used non-steroidal anti-inflammatory drugs, is known to possess neuroprotective activity and serve as a promising therapeutic for the treatment of neuroinflammation. In this study, the potential of an IBU-loaded poly(3,4-ethylenedioxypyrrole) (PEDOP) matrix has been assessed as a neural interface material with an aim to control astrocyte activation and suppress neuroinflammation in vitro. Three types of drug immobilization protocols were investigated, leading to the fabrication of IBU-loaded PEDOP matrices exhibiting a broad spectrum of electrical characteristics, drug release profiles, as well as biological responses. Among all investigated PEDOP formulations, PEDOP matrices formed through a three-step immobilization protocol exhibited the highest charge storage capacity (30 ± 1 mC/cm2) as well as a double layer capacitance of 645.0 ± 51.1 µF, associated with a relatively enlarged surface area. Demonstrating a total drug loading capacity of 150 µg/ml and a release rate constant of 0.15 1/h, this coating formulation may be employed as a safe electrical conducting drug eluting system.

Dietary practices in methylmalonic acidaemia: a European survey.

Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe. Methods A cross-sectional questionnaire was sent to European colleagues managing inherited metabolic disorders (IMDs) (n=53) with 27 questions about the nutritional management of organic acidaemias. Data were analysed by different age ranges (0-6 months; 7-12 months; 1-10 years; 11-16 years; >16 years). Results Questionnaires were returned from 53 centres. Twenty-five centres cared for 80 patients with MMA vitamin B12 responsive (MMAB12r) and 43 centres managed 215 patients with MMA vitamin B12 non-responsive (MMAB12nr). For MMAB12r patients, 44% of centres (n=11/25) prescribed natural protein below the World Health Organization/Food and Agriculture Organization/United Nations University (WHO/FAO/UNU) 2007 safe levels of protein intake in at least one age range. Precursor-free amino acids (PFAA) were prescribed by 40% of centres (10/25) caring for 36% (29/80) of all the patients. For MMAB12nr patients, 72% of centres (n=31/43) prescribed natural protein below the safe levels of protein intake (WHO/FAO/UNU 2007) in at least one age range. PFAA were prescribed by 77% of centres (n=33/43) managing 81% (n=174/215) of patients. In MMAB12nr patients, 90 (42%) required tube feeding: 25 via a nasogastric tube and 65 via a gastrostomy. Conclusions A high percentage of centres used PFAA in MMA patients together with a protein prescription that provided less than the safe levels of natural protein intake. However, there was inconsistent practices across Europe. Long-term efficacy studies are needed to study patient outcome when using PFAA with different severities of natural protein restrictions in patients with MMA to guide future practice.

Difficulties in the dietary management of a girl with two diseases requiring a special diet.

3-Methylcrotonylglycinuria (3-MCG) is an autosomal recessive inborn error of leucine metabolism caused by the deficiency of 3-methylocrotonyl-CoA carboxylase (3-MCC deficiency). It is the most commonly detected organic aciduria in newborn screening conducted by tandem mass spectrometry (MS/MS) [1, 2]. The clinical phenotype is heterogeneous, ranging from asymptomatic to acute metabolic decompensations [3, 4]. Although at least in severe cases and in acute life threatening episodes limiting natural protein intake (particularly leucine) together with high caloric intake during catabolic periods is required, the need for specific dietary management often seems questionable [2]. In contrast with the 3-MCC deficiency, in diabetes mellitus type 1 (DM1) a diet based on carbohydrate and protein-fat exchangers is beyond dispute. However, as DM1 is quite a common disease, it may occur in a single patient with a rare disease, such as 3-MCC deficiency.

Deviations in Peripheral Blood Cell Populations are Associated with the Stage of Primary Biliary Cholangitis and Presence of Itching.

To evaluate the role of Th17, Treg cells, activated T CD3+ and B CD19+ lymphocytes in primary biliary cholangitis (PBC) patients. 40 female patients with PBC and 20 healthy donors were enrolled in this study. The percentages and absolute counts of Th17, Treg, activated T CD3+, B CD19+, NK, NKT-like lymphocytes were measured by flow cytometry. Our research revealed significantly lower frequencies and absolute counts of CD4+CD25+FOXP3+ Treg cells (p < 0.0001), higher percentages and absolute counts of Th17 cells (IL-17A+CD3+CD4+; p < 0.0001 and p = 0.009, respectively), CD3-/CD16+CD56+ NK cells (p < 0.0001 and p = 0.039, respectively), CD3+/CD16+CD56+ NKT-like cells (p < 0.0001 and p = 0.048, respectively). There were also higher percentages and numbers of B CD19+ lymphocytes (p = 0.002 and p = 0.001, respectively) and higher percentages and absolute counts of activated B CD19+CD25+ cells (p = 0.007 and p = 0.002, respectively). Moreover, we observed a statistically significant correlation between the presence of itching and particular peripheral blood subpopulations in PBC patients. Absolute counts of both CD4+CD3+ cells (p = 0.0119) and CD3+CD25+ cells (p = 0.0329) were lower in patients with pruritus. A similar dependency was noted in reference to percentages of NKT-like cells (CD3+/CD16+CD56+; p = 0.0359) and (CD3+) T lymphocytes (p = 0.0302). Th17 and Treg cells are involved in the course of PBC. There is also the association between the pruritus and peripheral blood subpopulations.

A novel approach to genome-wide association analysis identifies genetic associations with primary biliary cholangitis and primary sclerosing cholangitis in Polish patients.

BACKGROUND: Primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC) are forms of hepatic autoimmunity, and risk for both diseases has a strong genetic component. This study aimed to define the genetic architecture of PBC and PSC within the Polish population. METHODS: Subjects were 443 women with PBC, 120 patients with PSC, and 934 healthy controls recruited from Gastroenterology Departments in various Polish hospitals. Allelotyping employed a pooled-DNA sample-based genome-wide association study (GWAS) approach, using Illumina Human Omni2.5-Exome BeadChips and the following novel selection criteria for risk loci: blocks of at least 10 single nucleotide polymorphisms (SNPs) in strong linkage disequilibrium, where the distance between each adjacent SNP pair in the block was less than 30 kb, and each SNP was associated with disease at a significance level of P < 0.005. A selected index SNP from each block was validated using TaqMan SNP genotyping assays. RESULTS: Nineteen and twenty-one SNPs were verified as associated with PBC and PSC, respectively, by individual genotyping; 19 (10/9, PBC/PSC) SNPs reached a stringent (corrected) significance threshold and a further 21 (9/12, PBC/PSC) reached a nominal level of significance (P < 0.05 with odds ratio (OR) > 1.2 or < 0.83), providing suggestive evidence of association. The SNPs mapped to seven (1p31.3, 3q13, 6p21, 7q32.1, 11q23.3, 17q12, 19q13.33) and one (6p21) chromosome region previously associated with PBC and PSC, respectively. The SNP, rs35730843, mapping to the POLR2G gene promoter (P = 1.2 × 10-5, OR = 0.39) demonstrated the highest effect size, and was protective for PBC, whereas for PSC respective SNPs were: rs13191240 in the intron of ADGRB3 gene (P = 0.0095, OR = 0.2) and rs3822659 (P = 0.0051, OR = 0.236) along with rs9686714 (P = 0.00077, OR = 0.2), both located in the WWC1 gene. CONCLUSIONS: Our cost-effective GWAS approach followed by individual genotyping confirmed several previously identified associations and discovered new susceptibility loci associated with PBC and/or PSC in Polish patients. However, further functional studies are warranted to understand the roles of these newly identified variants in the development of the two disorders.

QT Interval Prolongation and QRS Voltage Reduction in Patients with Liver Cirrhosis.

BACKGROUND: Liver cirrhosis is associated with functional abnormalities of the cardiovascular system with co-existing electrocardiographic (ECG) abnormalities. OBJECTIVES: The aim was to analyze ECG changes in patients with cirrhosis, to evaluate whether alcoholic etiology of cirrhosis and ascites has an impact on ECG changes. MATERIAL AND METHODS: The study involved 81 patients with previously untreated alcoholic cirrhosis (64 patients with ascites, classes B and C according to the Child-Pugh classification; and 17 without ascites, categorized as class A); 41 patients with previously untreated cirrhosis due to chronic hepatitis C (HCV--30 patients with ascites, classes B and C; and 11 without ascites, class A); 42 with alcoholic steatohepatitis and 46 with alcoholic steatosis. The control group consisted of 32 healthy volunteers. Twelve-lead ECG recordings were performed and selected parameters were measured. RESULTS: Significantly longer QT and QTc intervals and lower QRS voltage were found in patients with alcoholic and HCV cirrhosis compared to the controls. Significantly lower QRS voltage was found in subjects with ascites than in those without ascites. Removal of ascites significantly increased QRS voltage. CONCLUSIONS: In cirrhosis, irrespective of etiology, ECG changes involved prolonged QT and QTc intervals and reduced QRS voltage. Prolonged QT and QTc intervals were not related to the severity of cirrhosis or to the presence of ascites. However, low QRS voltage was associated with the presence of ascites. Removal of ascites reverses low QRS voltage.

Hepatomegaly, weight loss and general malaise - the first manifestations of primary systemic amyloidosis.

Amyloidosis is characterised by the accumulation of poorly soluble fibrous proteins in the extracellular space of various bodily organs. Light chain amyloidosis (AL) is recognised as the most common form of systemic amyloidosis. Light chains are deposited in the majority of bodily organs, and accumulation of them in the liver produces hepatomegaly. We report a case of AL-systemic amyloidosis with liver involvement in a 71-year-old woman. Hepatomegaly, weight loss and general malaise were the first manifestations of the disease. Liver biopsy found amyloid deposits along the sinusoids as well as in the space of Disse, inside the vascular wall and in connective tissue of the portal tracts, which showed a positive reaction in Congo Red stain. Further diagnosis showed the presence of systemic amyloidosis. The patient was put on cyclophosphamide and steroid therapy.

[Serum iron parameters in chronic liver diseses]. / Parametry gospodarki zelazem w przewleklych chorobach watroby.

UNLABELLED: Iron is an essential micronutrient of almost all organisms, which is involved in many metabolic processes. Disorders of serum iron balance that relate mainly to its deficiency are frequently observed in patients with liver diseases. The aim of the study was the evaluation of serum iron parameters in patients with different chronic liver diseases and analysis of the relationships between serum level of iron, ferritin and transferrin in women and men in groups examined. MATERIAL AND METHODS: The study includes 424 patients: 151 with alcoholic liver cirrhosis (ALC), 53 with nonalcoholic fatty liver disease (NAFLD), 54 with autoimmune hepatitis (AIH), 19 patients with hepatocellulare cancer (HOC), 34 with primary biliaris cirrhosis (PBC), 39 with chronic HCV hepatitis, 48 with chronic HBV hepatitis, 15 with primary sclerosans cholangitis (PSC) and 11 patients with hemochromatosis. Forty two healthy volunteers were the control group. RESULTS: The highest mean serum level of iron was observed in patients with hemochromatosis and was 278.56 +/- 25.04 mg/dl. The mean level of iron was statistically significant different in patients with HCC in comparison to the patients with ALC (p = 0.0000), with AIH (p = 0.0108) and NAFLD (p = 0.00768). The mean level of ferritin was statistically significantly higher among patients with hemochromatosis (p = 0.0000), with ALC (p = 0.0037) and NAFLD (p = 0.0442) than in the controls. Patients with AIH, HCC, HCV infection, PSC and hemochromatosis showed higher serum level of transferin than the controls (p = 0.0000). The mean level of iron and ferritin was lowerin women than in men in the patients with ALC (p = 0.0088, p = 0.0018 respectively). The mean level of ferritin was significantly lower in men than in women among patients with NAFLD. (p = 0.0065). There were no statistically significant differences in the mean level of examined parameters between the sexes. CONCLUSION: Reduced serum level of iron is observed in chronic liver diseases. Elevated ferritin level is typical for patients with ALC and NAFLD. Differences in the level of iron, ferritin and transferin between men and women concemrn the patients with ALC while among patients with NAFLD only ferritin level differences are found.

Behavioral and intellectual functioning in patients with tyrosinemia type I.

INTRODUCTION: In tyrosinemia type I (TT1) increased level of tyrosine and phenylalanine (both precursors of neurotransmitters), may potentially influence patients' cognitive development. AIM OF THE STUDY: Was to evaluate if the children during the treatment with phenylalanine- and tyrosine-restricted diet and nitisinone present with cognitive, emotional or behavioral problems and to find out whether plasma tyrosine and phenylalanine levels may have impact on this. MATERIAL AND METHODS: Cognitive development and behavior, together with plasma tyrosine and phenylalanine levels, were analyzed in eight patients during their first five years of nitisinone treatment. Psychological examination has been done using standard diagnostic methods: the Wechsler Intelligence Scale for Children (WISC-R) and Child Behavior Checklist CBCL/4-18 (parents version). RESULTS: The results showed that in the patients with TT1, attention deficit is not rare, and may be connected with the variation of the plasma tyrosine level. Moreover the reverse correlation between attention deficit and results from verbal scale may suggest decreased ability to verbal reasoning, comprehension, verbal expression and school difficulties. CONCLUSIONS: What is significant for the presence of attention disorders and the related difficulties in using the intellectual potential is not the level of tyrosine (high vs. low), but its changes (stability vs. instability). Therapeutic trials to stabilize the tyrosine level could alleviate the difficulties in focusing attention. Following a diet is necessary for keeping the normal level of tyrosine.

[Evaluation of alpha-fetoprotein concentration in patients with chronic liver diseases]. / Ocena stezenia alfa-fetoproteiny u pacjentów z przewleklymi schorzeniami watroby.

UNLABELLED: Alpha-fetoprotein (AFP) is a tumor marker used in clinical diagnosis and for monitoring the course of treatment. Serum concentration of AFP in excess of several hundred ng/ml is nearly 100 percent positive predictive value for hepatocellular carcinoma. The aim of this study was evaluation of AFP serum concentration in patients with different chronic liver diseases and the relationship between the concentration of AFP and gender in the studied groups of patients. MATERIAL AND METHODS: The study includes 359 patients: 72 with autoimmune hepatitis, 27 with cancer metastatic to the liver, 53 with nonalcoholic fatty liver disease, 207 with liver cirrhosis and 40 healthy volunteers as control group. The concentration of AFP was examined in all patients. RESULTS: The highest AFP concentration occurred in the patients with autoimmune hepatitis, with metastatic liver cancer and with liver cirrhosis 16.81 +/- 5.49 ng/ml, 9.67 +/- 1.48 ng/ml i 8.42 +/- 2.73 ng/ml (p < 0.001 compared to the control group) respectively. Considering the classification of cirrhosis according to Child-Pugh Score the mean concentrations of AFP were: in Class A - 7.03 +/- 2.29 ng/ml, B - 7.59 +/- 2.45 ng/ml i C - 10.02 +/- 2.40 ng/ml. There were no statistically significant differences in the mean AFP concentrations between the patients with nonalcoholic fatty liver disease and the control group. Also showed no differences in the average concentration of AFP in men and women in study groups of patients (p > 0.05). CONCLUSIONS: Elevated serum AFP concentration typically up to several ng/ml is observed in autoimmune hepatitis, metastatic liver cancer and liver cirrhosis. Concentration of AFP correlates with the severity of liver cirrhosis. Simple steatosis of liver as one of the forms of nonalcoholic fatty liver disease is characterized by normal serum concentration of AFP. No relationship between AFP concentration and gender in patients with chronic liver disease is observed.

The N34S mutation of the SPINK1 gene and alcoholic chronic pancreatitis.

INTRODUCTION:  Recent studies have shown the key role of genetic factors in the development of chronic pancreatitis. OBJECTIVES:  The aim of the study was to establish whether the frequency of the N34S mutation of serine protease inhibitor Kazal type 1 (SPINK1) gene differs between patients with alcoholic chronic pancreatitis, patients with nonalcoholic chronic pancreatitis, alcoholics without any digestive organ damage, and controls. We also sought to investigate whether the frequency of this mutation differs between women and men, and whether the mutation is associated with the age of patients at first diagnosis of chronic pancreatitis. PATIENTS AND METHODS:  The study included 207 patients: 67 with alcoholic chronic pancreatitis, 35 with nonalcoholic chronic pancreatitis, 43 alcoholics with no damage to digestive organs, and 62 healthy volunteers who served as controls. The N34S mutation of the SPINK1 gene was detected with the polymerase chain reaction. RESULTS:  The N34S mutation of the SPINK1 gene occurred in 15 of 207 patients (7.25%). The mutation was most frequent in patients with alcoholic chronic pancreatitis (10 patients, 16.39%) and was more frequent compared with the control group (2 patients, 3.23%) (P = 0.047). There were no statistically significant differences between the other groups: patients with nonalcoholic chronic pancreatitis (2 patients, 5.71%), alcoholics without digestive organ damage (1 patient, 2.33%), and controls. The mutation was more frequent in men than in women (P = 0.043). There were no differences between patients with and without the mutation in terms of the age at first diagnosis of chronic pancreatitis (P >0.05). CONCLUSIONS:  The N34S mutation of the SPINK1 gene seems to be significantly correlated with alcoholic chronic pancreatitis.

[Ascites as the first manifestation of ovarian cancer in the disseminated stage--case report]. / Wodobrzusze jako pierwszy objaw raka jajnika w stadium rozsianym--opis przypadku.

The presence of ascites is usually associated with portal hypertension, usually due to cirrhosis of the liver, with portal vein thrombosis, congestive cardiac failure, nephrotic syndrome, pancreatitis, tuberculosis. Approximately 10% of all cases of ascites occurs in malignant tumors, mostly of ovarian cancer. The purpose of this publication is to present the case of 63-year-old woman who has a basic and initial sole manifestation of disease--cancer of the ovary--was increasing ascites.

Why science cannot be value-free: understanding the rationality and responsibility of science.

Against the ideal of value-free science I argue that science is not--and cannot be--value-free and that relevant values are both cognitive and moral. I develop an argument by indicating various aspects of the value-ladenness of science. The recognition of the value-ladenness of science requires rethinking our understanding of the rationality and responsibility of science. Its rationality cannot be seen as merely instrumental--as it was seen by the ideal of value-free science--for this would result in limiting the autonomy of science and reducing scientists to "minds to hire". The scientific rationality must be seen as practical rationality which takes into account the full horizon of values. The scientific responsibility must also be broaden in scope and type. On this basis I draw three practical conclusions concerning the organization of research and training of young scientists, appealing to Plato's claim that those most capable of healing are also those most capable of harming.

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene.

Natural history of the disease in 4 unrelated Polish children with homozygous familial hypercholesterolemia (FH) is described. Their phenotypic homozygosity was established by identification of known LDLR gene mutations on both alleles, respectively: p.G592E & p.G592E in Patient 1; p.G592E & p.C667Y in Patient 2; p.S177L & p.R350X in Patient 3; and p.G592E & deletion in the promoter region, exons 1 and 2 in Patient 4. Heterozygosity of the mutations was revealed in all patients' mothers and fathers (obligatory heterozygotes) and in 1 out of 4 siblings studied. FH was diagnosed at the age of 4 months to 9 years by cholesterol screening among family members of patients with early cardiovascular disease episodes. At the time of FH detection, the children were asymptomatic. Only in 2, some skin eruptions were found. Antihyperlipidemic therapy was started, including a lipid-lowering diet, cholestyramine, and HMG-CoA inhibitors if necessary. No cardiovascular symptoms appeared during the observation up to the age of 18, 20, 19, and 17 years, respectively. An increase in external carotid artery diameter was found in a patient at the age of 9 years, and LDL-apheresis was introduced in his therapy. We conclude that the analysis of LDLR gene mutations in the studied FH children made it possible to identify 4 presymptomatic FH homozygotes and to introduce early appropriate treatment. Multicenter analysis of such persons would finally determine if the early lipid-lowering procedures can significantly reduce the risk of premature cardiovascular disease in homozygous FH.

[Maple Syrup Urine Disease in a newborn infant]. / Choroba syropu klonowego u noworodka.

Maple Syrup Urine Disease (MSUD) is a severe metabolic disorder secondary to an enzyme defect in the catabolic pathway of the branched chain amino acids: leucine, isoleucine and valine. Accumulation of these amino acids and derived from them alpha-keto-acids leads to encephalopathy and progressive degeneration of the nervous system in undiagnosed and hence untreated patients. Early diagnosis and elimination diet prevent complications and therefore create a possibility of both normal intellectual and physical progress. In consequence, in a few countries MSUD has been added to newborn screening programmes to create opportunity for early diagnosis especially in newborn infants before clinical symptoms are present. In the study the authors present a case report of a newborn infant with MSUD along with the current knowledge on MSUD diagnosis and treatment.

[Compliance of the diet restricted with leucine, isoleucine and valine in maple syrup urine disease (MSUD) children]. / Realizacja diety z ograniczeniem leucyny, izoleucyny i waliny u dzieci z choroba syropu klonowego (MSUD).

The aim of this study was to evaluate the compliance of the diet with limited branched-chain amino acids (BCAA) content in long-term observation of patients with maple syrup urine disease (MSUD). The study group consisted of 7 children at age of 1.5-18 years. Nutrition evaluation was based on current diet records from 3-4 days, every 3-4 months. Energy and nutrition values of proposed daily products lists and diet records was compared with adequate references and recommendations. Energy and content of most of the nutrients in proposed daily products lists were in agreement with RDI except calcium. Diet analysis at MSUD children revealed insufficient contents of: iron, zinc, copper, vitamin B1, B2, niacin and vitamin C (often below 90% RDI).

Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia.

Abnormalities in protein glycosylation are reported in fructosemia (HFI) and galactosemia, although, particularly in HFI, the published data are limited to single cases. The purpose was to investigate the usefulness of the carbohydrate-deficient transferrin (CDT) profile for identification and monitoring of these disorders. First we analyzed CDT values before and shortly after the diagnosis in 10 cases of HFI and 17 cases of galactosemia. In all patients, elevated CDT levels were found that significantly (p < 0.0001) decreased with the therapeutic diet (27.3 +/- 11.5% versus 9.3 +/- 5.1% for HFI and 43.8 +/- 14.1% versus 11.2 +/- 4.0% for galactosemia). To evaluate the use of CDT test in monitoring compliance, the test was performed in 25 HFI patients on fructose-restricted diet. We found an elevated CDT level on 104 from 134 tests (mean 11.3 +/- 5.5%, control 1.5%-6.2%). The fructose intake was found to be 90 +/- 70 mg/kg/d, and the diet was unbalanced. A number of patients presented lower height, elevated urinary uric acid excretion, and hypercalciuria. In conclusion, abnormal percentage of CDT (%CDT) values may allow prompt detection of HFI (or galactosemia). Persistence of some abnormalities in HFI on treatment may be caused by trace amounts of fructose ingestion and/or a deficient diet. Regular %CDT measurements are suggested for HFI treatment monitoring.