Ontology highlight
ABSTRACT:
SUBMITTER: Lee TM
PROVIDER: S-EPMC3777722 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
Lee T M TM Addonizio L J LJ Barshop B A BA Chung W K WK
Journal of inherited metabolic disease 20090224
Propionic acidaemia (PA) is an autosomal recessive disease that results from deficiency of propionyl-CoA carboxylase (PCC). In the majority of reported cases, the phenotype includes metabolic acidosis and/or neurological deficits. We report on a 14-year-old Asian-American male with PA who presented with isolated cardiomyopathy without any documented episodes of metabolic acidosis or evidence of any neurocognitive deficits. On routine metabolic screening, the patient was found to have urine organ ...[more]