Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.

Abstract

Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent inborn error of vitamin B12metabolism. The clinical phenotype includes systemic symptoms and neurological decompensation. Affected patients can be divided into two broad groups, as early-onset and late-onset. We present a Turkish patient who had neurological impairment at the age of four years as presented with late-onset cblC defect. Homozygous c.394C<T; p.R132* mutation in the MMACHC gene was detected. The patient was treated with hydroxocobalamin, betaine and folic acid combination with good clinical and biochemical response.

• Authors: Mustafa Kılıç, Rıza Köksal Özgül, Ali Dursun, Ayşegül Tokatlı, Hatice Serap Kalkanoğlu-Sivri, Banu Anlar, Brian Fowler, Turgay Coşkun
• Journal: The Turkish journal of pediatrics (Turk J Pediatr) 2013 Nov-Dec Vol. 55 Issue 6 Pg. 633-6 ISSN: 2791-6421 [Electronic] Turkey
• PMID: 24577983 (Publication Type: Case Reports, Journal Article)

Chemical References

• Carrier Proteins
• DNA
• MMACHC protein, human
• Oxidoreductases
• Vitamin B 12

Topics

• Amino Acid Metabolism, Inborn Errors (genetics, metabolism)
• Carrier Proteins (genetics, metabolism)
• Child, Preschool
• DNA (genetics)
• DNA Mutational Analysis
• Female
• Homocystinuria (genetics, metabolism)
• Homozygote
• Humans
• Mutation
• Oxidoreductases
• Phenotype
• Vitamin B 12 (metabolism)
• Vitamin B 12 Deficiency (congenital)