Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Unusual presentation of propionic acidaemia as isolated cardiomyopathy.

Journal of inherited metabolic disease - 1 Dec 2009

Lee T M, Addonizio L J, Barshop B A, Chung W K

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Base Sequence
Share to Cardiomyopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Transplantation

Share to Methylmalonyl-CoA Decarboxylase

Share to Mutation

Share to Phenotype

Share to Propionates

Source

Open in PubMed Open full text

Identifiers

PMID: 19238581
DOI: 10.1007/s10545-009-1084-1
PMCID: PMC3777722

Genes

PCCB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unusual presentation of propionic acidaemia as isolated cardiomyopathy.PMID 19238581Read ↗

Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.Semantic proximity Read ↗

Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.Semantic proximity Read ↗

Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia.Semantic proximity Read ↗

Heart and heart-liver transplantation in Amish patients with propionic acidemia.Semantic proximity Read ↗

[Phenotypes and genotypes of 78 patients with propionic acidemia].Semantic proximity Read ↗

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.Semantic proximity Read ↗

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.Semantic proximity Read ↗

Prevalence of propionic acidemia in ChinaSemantic proximity Read ↗

Propionyl-CoA carboxylase - A review.Semantic proximity Read ↗

Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.Semantic proximity Read ↗

New splicing mutations in propionic acidemia.Semantic proximity Read ↗

Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.