Our aim was to monitor folate status in five creatine transporter deficient (CRTR) patients undergoing glycine/L-arginine (Gly/Arg) therapy after the finding of severe hyperhomocysteinemia in one of these cases.Five male patients (age range: 12-20; median ¼ 13 years) genetically confirmed of CRTR deficiency, who were treated with oral glycine (200 mg/kg/day) and L-arginine (400 mg/kg/day) twice a day for 9 months. Clinical followup was done at baseline and every 3 months after the start of the therapy. Serum folate was assayed by automated procedures, and plasma total homocysteine (tHcys) by HPLC with fluorescence detection. The 677C!T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was analyzed by PCR.Case 1 presented severe hyperhomocysteinemia (81 mmol/L; control values < 10.8) 3 months after Gly/ Arg therapy. Three out of the other four cases disclosed mildly increased plasma tHcys values. Serum folate was normal in all cases before therapy, but 3 months after, a deficient status was detected in two cases and a clear decrement in the others when compared with baseline conditions. Two cases were homozygous for the 677C!T polymorphism of the MTHFR, presenting the highest plasma tHcys values. In all cases, after 3 months of folate supplementation (5 mg/day), both serum folate and tHcys concentrations returned to normal values.In conclusion, prior to the start of long-term Gly/Arg therapy, the monitoring of folate and plasma tHcys values, together with study of the 677C!T polymorphism of the MTHFR gene, seems necessary in order to correct hyperhomocysteinemia by means of folate supplementation.
17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically implicated in Alzheimer's disease pathogenesis, studies of amyloid-β peptide (Aβ) in patients with HSD10 deficiency have not been previously reported. We found, in a severely affected child with HSD10 deficiency, undetectable levels of Aβ in the cerebrospinal fluid, together with low expression of brain-derived neurotrophic factor, α-synuclein, and serotonin metabolites. Confirmation of these findings in other patients would help elucidating mechanisms of synaptic dysfunction in this disease, and highlight the role of Aβ in both early and late periods of life.
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