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homocystinuria/diare
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An open-label, 24-week pilot study of the methyl donor betaine in Alzheimer disease patients.
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We investigated the safety and tolerability of betaine in patients with Alzheimer disease (AD). Betaine is an alternative methyl donor, distinct from the folate-and cobalamin-dependent conversion pathway between homocysteine and methionine. Betaine has been used successfully to reduce homocysteine
Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency.
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The most common disorder of vitamin B12 metabolism is methylmalonic aciduria and homocystinuria type cobalamin C (cblC), which accounts for most of the cases is referred to as cblC deficiency. Cobalamin deficiency is one of the causes of early-onset hemolytic uremic syndrome (HUS). Here, we present
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
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Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most common genetic type of functional cobalamin (vitamin B12) deficiency. This metabolic disease is characterized by marked heterogeneity of neurocognitive disease (microcephaly, seizures, developmental delay, ataxia,
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