Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb.

Introduction: Glycogen storage disorder (GSD) IXb is characterized by liver and muscle involvement. We present a GSD IXb patient with an incidental union of nephrotic syndrome. Case Report: A 4 year-old-patient was diagnosed with GSD IXb at 13 months of age with mildly elevated transaminases and hepatomegaly. During the follow-up period, there was no hypoglycemia. Development and growth were normal. In the last month, the onset of generalized edema was reported. Urinalysis showed a high protein level. He had low serum albumin, high serum triglycerides cholesterol. Complement levels were normal. The patient was diagnosed as minimal change disease with a renal biopsy. He was treated with oral prednisone. Discussion: Minimal Change Disease is the most common cause of idiopathic nephrotic syndrome cases in children and the first step for therapy is the usage of corticosteroids. This is the first report of nephrotic syndrome associated with GSD IXb disease

Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency

PubMed ID: 19434424Betaine therapy was given for 2 years to a 2- year-old boy with 5,10-methylenetetrahydrofolate reductase deficiency. Used as a methyl donor to lower homocysteine levels through methylation of methionine, betaine has been reported to be effective in treating homocystinuria. Satisfactory biochemical and clinical responses were obtained with the following regimen: betaine started in the newborn period at increasing doses to reach 1 g given six times a day. It is suggested that frequent administration of a moderate dose may provide clinical and biochemical benefit. © Springer-Verlag 2009

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WOS: 00043688260000

Effect of blueberry tea on lipid and antioxidant status in children with heterozygous familial hypercholesterolemia: pilot study

WOS: 000340611800008Aim: The aim of the study was to determine whether 6-month regular ingestion of blueberry tea could improve the lipids and oxidative biomarkers in children with heterozygous familial hypercholesterolemia (HeFH). Materials & methods: Pulverized blueberry tea brewed for 5 min (PBTB5; 32 mg/kg/day anthocyanins) was consumed for 6 months by ten patients with HeFH (group A) and results were compared with group B (ten patients with HeFH who did not receive PBTB5). Lipids, lipid peroxidation products and antioxidative status were measured at baseline, 1 and 3-6 months on PBTB5, and after a washout period (12 months). Results: After 1 month of treatment, there was no significant difference in the lipids, peroxidation and antioxidative status between groups. Reductions in total and LDL-cholesterol in group A were found after 3 (p < 0.05) and 6 months (p < 0.01). After 6 months of treatment, HDL-cholesterol of group A increased (48.78%; p < 0.01). There were significant increases in antioxidants and decreases in lipid peroxidation products of group A at the end of 6 months. At the end of the washout period the difference between group A and B lipids, lipid peroxidation and antioxidative status did not reach statistical significance. Conclusion: PBTB5 had a positive effect on plasma lipid profiles and antioxidant status in children with HeFH when consumed daily and for a long time

Severe perinatal hypophosphatasia case with a novel mutation

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