Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

UNLABELLED: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a fatty acid oxidation disorder with especially high mortality and uncertain long-term outcome. The aim of the study was to analyze the influence of diagnostic approach on survival in 59 affected children. Referral to a metabolic center was replaced over time by urine/blood testing in centralized metabolic laboratory (selective screening) and by pilot tandem mass spectrometry newborn screening (NBS). Molecular analysis revealed the prevalent mutation in the HADHA gene in all 58 examined cases. Twenty patients died. The number of detections and number of deaths were respectively 9 and 4 (44%) in the patients recognized by differential diagnosis, 28 and 9 (32%) - by selective screening, and 11 and 1 (9%) - by NBS. In 80% of cases the death occurred before or within 3 weeks from the identification. Urgent and active metabolic service remarkably influenced the surviving. The current age of 39 survivors is 0.5 to 23 yrs (mean 7.2 yrs). The disease frequency estimated on the patients number was 1: 115 450, whereas in the pilot NBS - 1: 109 750 (658 492 neonates tested). Interestingly, the phenylalanine level in asymptomatic neonates frequently exceeded the cut-off values. CONCLUSIONS: 1) Urgent metabolic intervention decreases mortality of LCHAD-deficient patients, but the prognosis is still uncertain. 2) Emergent metabolic reporting and service are crucial also for the survival of neonates detected by NBS. 3) The nationwide selective screening appeared efficient in LCHADD detection in the country. 4) Transient mild hyperphenylalaninaemia may occur in LCHAD-deficient newborns.

[Benign acute childhood myositis (BACM)--cases report]. / Lagodne ostre dzieciece zapalenie miesni--opis przypadków.

Benign acute childhood myositis (BACM) is characterised by sudden calf pain and inability to walk. We analyzed the characteristics of seven boys and two girls with BACM treated in the Pediatric Department from April 2005 to March 2009. The mean age at onset of symptoms was 7 +/- 2 years. Two boys were hospitalized twice for BACM. All cases occurred in winter or spring. 7 out of all admissions were clustered together in one week long periods. Patients demonstrated prodromal symptoms of flu-like illness followed by the sudden onset of difficulty in walking. One girl additionally complained of a painful right hip. Four patients received inosine pranobex for prodromal viral infection before the clinical onset of myositis. In all cases, creatine phosphokinase (CPK; the highest value at 8988 U/l) and aspartate aminotransferase (AST; the highest value at 329 U/l) values were elevated. The serum concentration of myoglobin was elevated in five out of six tested patients (the highest value at 2172 microg/l). The following haematological abnormalities were detected: leucocytopenia (the lowest WBC 1.35 x 10(3)/microl), neutropenia, and trombocytopenia. All patients made a rapid recovery within 1 to 5 days. Pediatricians and emergency medicine specialists must be aware that BACM is a self-limiting disorder with the acute onset of inability to walk, elevated CPK and AST levels, and transient haematological abnormalities. There is no sufficient data from clinical reports on immunostimulant use before the onset of BACM.

[Pregnancy and inborn errors of metabolism]. / Wrodzone bledy metaboliczne a ciaza.

Increasing number of patients with inborn errors of metabolism (IEM) are now reaching adulthood and are in position to reproduce. Because of the rarity of individual disorders our knowledge of risks factors associated with pregnancy is limited. Obstetrics problems in IEM can be divided into two categories: pregnancy effects on maternal metabolic disorders and relation between mother and fetus related to who of them is affected. Detrimental effects upon the fetus may be directly caused by maternal disease, as it occurs in PKU, or indirectly by maternal supplementation with harmful substrate, as occurs in galactosemia. Less commonly, fetal inborn error of metabolism may affect the mother's health. Pregnancies in which the fetus had long-chain hydroxyacyl-CoA dehydrogenase deficiency have been complicated by life-threatening HELLP syndrome (haemolysis, elevated liver enzymes and low platelets) or AFL (acute fatty liver of pregnancy) during third trimester. The management of labor and the postpartum period (for women and newborns) has to be carefully planned to avoid significant metabolic decompensation.

The Mediterranean diet for Polish infants: a losing struggle or a battle still worth fighting?

The Mediterranean diet is well known for its health-promoting effects. Among its key ingredients, olive oil is the most characteristic. Processing industries have been successfully manufacturing and marketing jarred baby foods with the use of vegetable oils, including olive oil, as well as other sources of visible fat. We aimed to survey manufacturer claims concerning added fat in jarred infant foods supplied to the Polish market. A total of 124 kinds of infant foods from six suppliers were analyzed. Corn, canola, and soybean oil occupied the first three positions, respectively, in rank order of vegetable oils used in jarred baby foods. In our sample, only one type of ready-to-eat jars with vegetables contained olive oil. 11% of products contained cow milk butter or cream. 61% of jarred "dinners" contained poultry or fish, which are typical sources of animal protein in the Mediterranean diet. Given that commercial baby foods currently available in the Polish market contain no olive oil, we advocate considering home preparation of infant foods with the use of visible fat. Medical professionals should encourage food manufacturers to return to the concepts of the Mediterranean diet for young consumers, aimed at long-term health.

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.

[Vitamin E status in hypercholesterolemic children]. / Status witaminy e u dzieci z hipercholesterolemia.

The prime role of oxidized low-density lipoprotein in the pathogenesis of atherosclerosis is almost universally accepted. Fat soluble antioxidant vitamin E associated with lipoproteins, appears to have antiatheroma properties. In the presented studies concentration of vitamin E and the relationship between tocopherol and lipids were studied in blood of hypercholesterolemic children. Level of vitamin E was determined by high-performance liquid chromatography (HPLC) method. Compared with normocholesterolemic children, hypercholesterolemic patients had a significantly lower red blood cell vitamin E content (2.55 +/- 0.19 micromol/l vs 3.15+/- 0.33 micromol/l; p<0.005) in spite of their higher plasma vitamin E concentration (27.9 +/- 8.3 micromol/l vs 21.01 +/- 3.6 micromol/l; pl;0.001). In the group of patient tocopherol-to-total cholesterol and tocopherol-to-lipids ratio was statistically lower compared to those in the control group. In hypecholesterolemic children vitamin E positively correlated with total cholesterol (r=0.43; p<0.02), LDL-C (low-density lipoprotein cholesterol) (r=0.42; p<0.02) and lipids (triglycerides + total cholesterol) (r=0.45; p<0.02). This study demonstrates that total plasma vitamin E concentration is not a suitable predictor of cell vitamin E status. Our results suggested that the tocopherol of erythrocytes and vitamin E to lipids ratio in plasma, could be more meaningful indicators to evaluate the vitamin E status in hypercholesterolemic children.