Late-onset cobalamin-C disorder: a challenging diagnosis.

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Ben-Omran TI, Wong H, Blaser S, Feigenbaum A

Late-onset cobalamin-C disorder: a challenging diagnosis.

Am J Med Genet A. 2007 May 1;143A(9):979-84.

PubMed ID

17431913 [ View in PubMed

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Abstract

Cobalamin-C (cblC) disease is a rare autosomal recessive disorder due to defective intracellular cobalamin metabolism. There are few (13) reported patients of the late-onset presentation of cblC disease with paucity of detailed clinical descriptions. This results in this condition being easily missed. In this report, we describe clinical and biochemical findings of two unrelated patients with late-onset cblC disease who presented with neuropsychiatric symptoms. Serial MRI images are provided for one of these patients. Presumptive diagnosis was made with urine and plasma biochemical markers and confirmed with fibroblast analysis. These patients illustrate the challenging diagnosis of this disease and also report on the rare associated findings of vasculopathy and mitochondrial respiratory chain dysfunction. Mutation analysis of the MMACHC gene showed that both patients were homozygous for 394C --> T which suggests a founder effect.

DrugBank Data that Cites this Article

Drug Targets

Drug	Target	Kind	Organism	Pharmacological Action	Actions
Cyanocobalamin	Methylmalonic aciduria and homocystinuria type C protein	Protein	Humans	Unknown	Cofactor	Details