In:
Practical Neurology, BMJ, Vol. 22, No. 5 ( 2022-10), p. 418-421
Abstract:
Cobalamin C disease is the most common inborn error of cobalamin metabolism, resulting from mutations in methylmalonic aciduria and homocystinuria type C protein (MMACHC ) gene. There is associated elevation of homocysteine and methylmalonic acid and decreased synthesis of methionine. It is a multisystem disorder characterised by cognitive impairment, psychiatric manifestations, haematological manifestations and thromboembolic phenomena. Its variable clinical presentation and wide age distribution at presentation necessitates a high index of diagnostic suspicion. The diagnosis is suggested by amino acid chromatography and confirmed by sequencing analysis of the MMACHC gene . Parenteral hydroxycobalamin and betaine can bring significant clinical and biochemical improvement and is the recommended long-term therapy.
Type of Medium:
Online Resource
ISSN:
1474-7758
,
1474-7766
DOI:
10.1136/practneurol-2022-003447
Language:
English
Publisher:
BMJ
Publication Date:
2022
detail.hit.zdb_id:
2075532-6