Previous cardiomyopathies - including childhood onset
Gene: MMACHC
This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.Created: 18 Apr 2019, 11:53 a.m.
Phenotypes
Methylmalonic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Hypertrophic-hypocontractile cardiomyopathy
Publications
Methylmalonic aciduria and homocystinuria, cblC type OMIM#277400Created: 25 Mar 2019, 4:30 p.m.
Cardiomyopathy is not a common feature of this disorder but this paper was published: Tampaiboon P et al (2012). Noncompaction of the ventricular myocardium and hydrops fetalis in Cobalamin C disease. JMID Reports 197:33-38. This article presents a case series of patients with cardiac involvement, can be HCM, DCM, LVNC and undefined. Recommended testing for cardiomyopathy patients here: Bowron & Olpin (2012). MetBioNet Best Practice Guidelines: Investigation of an inherited metabolic cause of cardiomyopathy. (www.metbio.net). Gizicki (2014) Ophthalmology 121: 381 PubMed: 24126030 - mainly neurological involvement.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source MetBioNet was added to MMACHC. Added phenotypes Hypertrophic-hypocontractile cardiomyopathy; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Methylmalonic aciduria for gene: MMACHC
Source South West GLH was added to MMACHC.
Eleanor Williams: Comment on publications: Addin
Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type to Methylmalonic aciduria and homocystinuria, cblC type, 277400
gene: MMACHC was added gene: MMACHC was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 27604308 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type