Previous cardiomyopathies - including childhood onset
Gene: PCCA
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
Propionic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Hypertrophic-hypocontractile cardiomyopathy
Publications
Propionicacidemia OMIM#606054Created: 25 Mar 2019, 4:30 p.m.
Cardiomyopathy is not a common feature of this disorder, but rare cases have been reported with cardiomyopathy. MetBioNet Best Practice Guidelines: Bowron & Olpin (2012). Investigation of an inherited metabolic cause of cardiomyopathy. (www.metbio.net). Lcke Metabolism. 2004 Jun;53(6):809-10: described a 4 1/2 year old girl who died of heart arrhythmia before presenting with other features of disease.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 PCCA. Added phenotypes Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Propionic aciduria; Hypertrophic-hypocontractile cardiomyopathy for gene: PCCA
Source South West GLH was added to PCCA.
Eleanor Williams: Comment on publications: Addin
gene: PCCA was added gene: PCCA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCA were set to 27604308 Phenotypes for gene: PCCA were set to Propionic acidemia; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionic aciduria (Organic acidurias); Propionicacidemia 606054; Propionicacidemia