A Case of Glycogen Storage Disease Type 1a Mimicking Familial Chylomicronemia Syndrome.

Glycogen storage disease type 1a (GSD1a) is an autosomal recessively inherited inborn error of metabolism caused by a mutation in the G6PC gene, which encodes the catalytic subunit of glucose-6-phosphatase-α (G6Pase-α) enzyme. This enzyme plays a role in the final step of gluconeogenesis and glycogenolysis. Patients carrying GSD1a show growth retardation, hypoglycemia, hepatomegaly, hepatic steatosis, hyperlipidemia, hyperuricemia and lactic acidemia. Long-term symptoms include gouty arthritis and uric acid stones, osteoporosis, renal failure, intestinal impairment, cirrhosis and hepatic adenomas, and eventually, hepatocellular carcinoma. Hyperlipidemia is the indicator of poor metabolic control in GSD1a. Patients with variable levels of triglycerides (TGs) have been reported in the literature. We present a case of GSD1a that presented with severe hypertriglyceridemia (HTG) mimicking familial chylomicronemia syndrome.

Serum carnitine levels in newborns with perinatal asphyxia and relation to neurologic prognosis.

Neonatal hypoxic encephalopathy is one of the major causes of permanent neurological sequel. This study was conducted to investigate serum total, free and acylcarnitine levels in asphyxiated newborns with or without encephalopathy. Serum total, free and acylcarnitine levels were investigated in 21 newborns with and seven asphyxiated newborns without signs of encephalopathy. The newborns with encephalopathy were further divided into grade 1, 2 and 3 encephalopathy groups. Serum total and acylcarnitine concentrations of the whole encephalopathy group were significantly lower than the non-encephalopathy group (p = 0.042 for both). Serum total and acylcarnitine concentrations of grade 3 encephalopathy group were significantly lower than the non-encephalopathy group (p = 0.014 and p = 0.040, respectively). No significant differences were noticed for free carnitine levels. Total carnitine levels were positively correlated with birth weight and 10th minute apgar score, whereas acylcarnitine levels were found to correlate with cord blood pH and free carnitine levels with birth weight. Cord blood pH, and total carnitine levels were found to be the most significant determinants of the neurological outcome at one year of age. It was emphasized that carnitine deficiency could occur in severely affected asphyxiated newborns and it is related to the outcome at one year of age.

Serum levels of vitamins A, C, and E, beta-carotene, selenium, and zinc in patients with Behçet's disease: a controlled study.

Behçet's disease is a multisystemic disease characterized by activation and remission periods. The etiopathogenesis is not exactly known; a genetic defect in the immunoregulatory system induced by infectious agents, like viruses and bacteria, is thought to cause the disease. In this study, we examine the serum levels of vitamins A, C, and E, beta-carotene, selenium, and zinc in Behçet's disease patients and investigate the relationship between these serum levels and the activation of the disease. We conclude that adding vitamin E to the treatment of Behçet's disease patients and its effects on the prognosis of the disease need to be further investigated by controlled studies.

Plasma homocysteine and lipoprotein (a) levels as risk factors for atherosclerotic vascular disease in epileptic children taking anticonvulsants.

AIM: To assess the effect of anticonvulsant treatment on plasma homocysteine level and lipoprotein (a) in epileptic children. METHODS: Plasma total homocysteine, folate, vitamin B12 and lipoprotein (a) concentrations were measured in 111 epilectic children taking anticonvulsant drugs for longer than 12 mo. Forty-six healthy, sex- and age-matched children served as controls. RESULTS: Patients and controls differed significantly in concentrations of homocysteine (p < 0.05) and lipoprotein (a) (p < 0.001). The number of patients with homocysteine concentrations of >9 microM was significantly higher in the patient group than in the control group. A significant inverse relationship was found between vitamin B12 folate levels and plasma homocysteine levels in the patient group; 28.8% of the patient group had lipoprotein (a) concentrations above the cut-off value (30 mg/dl) for increased risk of early atherosclerosis, whereas none of the control patients had concentrations above this value. CONCLUSION: These data indicate that prolonged anticonvulsant treatment could increase plasma homocysteine and lipoprotein (a) concentrations and that it may be useful to measure the levels routinely in order to prevent atherosclerosis in epileptic children taking anticonvulsant drugs.

Excitatory amino acids and taurine levels in cerebrospinal fluid of hypoxic ischemic encephalopathy in newborn.

The recent studies indicating the transiently enhanced expression of excitatory amino acid receptors in hypoxia vulnerable brain regions and the elevated concentration of aspartate and glutamate in cerebrospinal fluid of asphyxiated newborns strongly suggest the role of excitatory amino acids in hypoxic ischemic brain damage in the developing human brain. In this study, we compared the concentrations of glutamate, aspartate, taurine and glycine in the cerebrospinal fluid of asphyxiated infants with values of a healthy control group. The concentrations of aspartate (5.82 +/- 3.36), glutamate (1.76 +/- 1.0) and taurine (9.32 +/- 9.1) were significantly elevated in cerebrospinal fluid of asphyxiated infants (P < 0.05). When compared to the control group, the high levels of aspartate was correlated with the degrees of hypoxic-ischemic encephalopathy (HIE) and the varying outcome. The high levels of aspartate and glutamate in the asphyxiated patients adds further evidence to the role of excitotoxicity in hypoxic ischemic encephalopathy. The mental and motor development of the patients in asphyxiated group was followed for 3 years.

Plasma and erythrocyte vitamin E levels in children with insulin dependent diabetes mellitus.

Vitamin E is considered to be one of the most important antioxidants. There is a trend today to supply diabetic children with vitamin E in order to prevent microvascular complications. In this study, our objective was to demonstrate validity of plasma and erythrocyte vitamin E levels in diabetic children. This study was conducted on twenty-five diabetic patients aged from 7-16 years and ten non-diabetic, age-matched healthy subjects as the control group. Vitamin E levels were measured by high-performance liquid chromatography. There was no significant difference between the mean plasma vitamin E levels of diabetic and control groups, 870.80 +/- 220.51 micrograms/dl and 891 +/- 221.21 micrograms/dl, respectively (p > 0.05). The mean erythrocyte vitamin E levels of diabetic and control groups were significantly different: 183.12 +/- 62.58 micrograms/dl and 246.90 +/- 68.26 micrograms/dl, respectively (p < 0.05). Erythrocyte vitamin E levels were significantly lower than plasma vitamin E levels in both groups. We further investigated whether a correlation exists between plasma and erythrocyte vitamin E levels and duration of diabetes, insulin dose and HbA1c measurements. However no correlation was found. In conclusion, measurement of erythrocyte vitamin E levels may be considered to be more valuable than plasma vitamin E levels in diabetic children and supplementation may be provided according to erythrocyte levels rather than plasma levels.

Intermediate dose of methotrexate toxicity in non-Hodgkin lymphoma.

Methotrexate (MTX) is the chemotherapeutic for which the serum levels can be detected. If the MTX level is detected in time, high toxicity risk can be decreased. In this study, intermediate doses of MTX (1 g/m2) infusions are administered to B-cell non-Hodgkin lymphoma patients between 3 and 13 years old. The toxicity of MTX in accordance with serum levels and the toxicity of other combined drugs are investigated. Blood samples were collected consecutively, and MTX levels were detected by high-performance liquid chromatography. When hematological, gastrointestinal, and renal toxicity scores were compared with the 24-h serum levels of MTX, they showed a significant positive correlation. Hematological toxicity scores increased by Ifosfamide, Etoposide, and Cytarabine combined with MTX without altering the serum levels. Antibiotic combination with MTX has no effect on the toxicity scores. In conclusion, if MTX is combined with other myelosuppressive, hepatotoxic, and nephrotoxic drugs, the measurement of MTX serum levels alone is not a sufficient parameter to show the toxicity.

Role of free oxygen radicals and prostanoids in the pathogenesis of Henoch-Schönlein Purpura.

The pathogenesis of Henoch-Schonlein Purpura (HSP) is still controversial. The aim of our study was to investigate the role of oxidative stress and cyclooxygenase (CO) pathway products in the pathogenesis of HSP. In order to investigate this, malondialdehyde (MDA) levels, indicating lipid peroxidation, prostaglandin E (PGE)-like activity as inflammatory mediator and vitamin E (vit-E) levels indicating anti-oxidant status were studied in a group of 10 children with HSP (five girls and five boys, aged 6-21 years, mean 10.7 years), both in the acute and recovery phase of the disease and in five age and sex-matched healthy children as a control group. The patients were also grouped into low and high clinical score groups. Plasma levels of MDA and PGE-like activity were significantly elevated in the active phase of HSP compared to the recovery phase. Vit-E levels were significantly reduced in the active phase compared to the recovery phase. The plasma levels of PGE-like activity of the patients obtained in the active phase were significantly higher than the levels of the control group, whereas the levels of the recovery phase were significantly lower than in the control group. No such difference between the controls and MDA and vit-E levels in the patient group was shown. No correlation between the clinical scores and the parameters studied could be found. Our findings indicate that oxidant stress and CO pathway products may play a role in the pathogenesis of HSP.

Role of excitatory aminoacids in neonatal hypoglycemia.

BACKGROUND: In many neurological disorders, injury to neurons may be due in part to overstimulation of the receptors for the excitatory amino acids glutamate and aspartate. The same excitotoxic mechanism and high aspartate levels in experimental studies led to this study of the concentrations of glutamate and aspartate and zinc, copper, and magnesium levels in the cerebrospinal fluid (CSF) of hypoglycemic newborns. METHODS: Aspartate and glutamate were determined by high-performance liquid chromatography, and magnesium, zinc and copper by atomic absorption spectrophotometer. RESULTS: The CSF levels of aspartate (3.98 +/- 1.77 mumol/L) and glutamate (1.7 +/- 1.05 mumol/L) in 20 hypoglycemic newborns were significantly higher when compared with the values of aspartate (2.19 +/- 0.6 mumol/L) and glutamate (0.77 +/- 0.34 mumol/L) of 10 control newborns. In the hypoglycemic patients, the concentration of zinc (0.57 +/- 0.13 microgram/mL), but not copper (0.39 +/- 0.40 microgram/mL) was significantly lower when compared with the control values. There was no difference in the magnesium levels between the two groups. CONCLUSIONS: The higher levels of excitatory amino acids found in the CSF of hypoglycemic infants than in controls were consistent with previous animal studies, which may indicate the role of excitatory amino acids in the late biochemical effects of hypoglycemia in newborn brain metabolism.

Gyrate atrophy of the choroid and retina.

Gyrate atrophy of the choroid and retina is characterized by autosomal recessive inheritance, progressive chorioretinal atrophy beginning in late childhood, and hyperornithinemia with ornithinuria caused by deficient ornithine aminotransferase activity. In this paper, four patients with gyrate atrophy are described. All patients had visual impairment, mental retardation, hyperornithinemia, hypolysinemia, ornithinuria and lysinuria. The first case had hypermetropic astigmatism in contrast to other reported gyrate atrophies. These are the first reported cases from Turkey, but gyrate atrophy may not be rare in Turkey since the frequency of some other metabolic disorders has also been reported to be high. It is suggested that gyrate atrophy must be considered in all patients with chorioretinal atrophy.

The influence of hyperthyroidism on zinc distribution in adult rats.

The zinc distribution was determined in adult rats 15 d after the beginning of thyroxin (T4) treatment. The zinc was investigated in RBC, plasma, brain, heart, muscle, liver, kidney, spleen, thymus, and bone. The results confirm that T4 modified zinc in RBC and tissues. Zinc was significantly decreased in RBC (45%) but no significant difference was found in plasma zinc between experimental and control groups. Zinc was decreased 33% in muscle and 14% in liver, but was increased 10% in kidney. Brain, heart, spleen, thymus were the least affected tissues. Bone zinc was decreased but no statistically significant difference was found between the two groups.