Cobalamin C defect: natural history, pathophysiology, and treatment.

Journal of Inherited Metabolic Disease
Diego MartinelliCarlo Dionisi-Vici

Abstract

Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. The gene responsible for the Cbl-C defect has been recently identified, and more than 40 mutations have been reported. MMACHC gene is located on chromosome 1p and catalyzes the reductive decyanation of CNCbl. Cbl-C patients present with a heterogeneous clinical picture and, based on their age at onset, can be categorized into two distinct clinical forms. Early-onset patients, presenting symptoms within the first year, show a multisystem disease with severe neurological, ocular, haematological, renal, gastrointestinal, cardiac, and pulmonary manifestations. Late-onset patients present a milder clinical phenotype with acute or slowly progressive neurological symptoms and behavioral disturbances. To improve clinical course and metabolic abnormalities, treatment of Cbl-C defect usually consists of a combined approach that utilizes vitamin B12 to increase intracellular cobalamin and to maximize deficient enzyme a...Continue Reading

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Citations

Jul 13, 2011·Journal of Inherited Metabolic Disease·Nuria Carrillo-Carrasco, Charles P Venditti
Jun 15, 2013·Clinical Neurology and Neurosurgery·Turkan PatirogluSongul Yildirim
Mar 7, 2014·Journal of Inherited Metabolic Disease·Sabine FischerCarlo Dionisi-Vici
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