title: 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.affiliation: Division of Hacettepe University Faculty of Medicine, Ankara, Turkey, and 3University Children's Hospital, Basel, Switzerland. kilickorkmaz@yahoo.com.tr.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Kılıç
authors.forename: Rıza Köksal
authors.initials: RK
authors.lastname: Özgül
authors.forename: Ali
authors.initials: A
authors.lastname: Dursun
authors.forename: Ayşegül
authors.initials: A
authors.lastname: Tokatlı
authors.forename: Hatice Serap
authors.initials: HS
authors.lastname: Kalkanoğlu-Sivri
authors.forename: Banu
authors.initials: B
authors.lastname: Anlar
authors.forename: Brian
authors.initials: B
authors.lastname: Fowler
authors.forename: Turgay
authors.initials: T
authors.lastname: Coşkun
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006712:Homocystinuria / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D009154:Mutation; D010088:Oxidoreductases; D010641:Phenotype; D014805:Vitamin B 12 / Q000378:metabolism*; D014806:Vitamin B 12 Deficiency / Q000151:congenital
chemical_list: D002352:Carrier Proteins; D004247:DNA; C508359:MMACHC protein, human; D010088:Oxidoreductases; D014805:Vitamin B 12