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Article

[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?].

HNO - 1 Jan 2008

Brosch S, Rauffeisen A, Baur M, Michels L, Trefz F K, Pfister M

Abstract excerpt

CURRENT KNOWLEDGE: Propionic acidemia is caused by a gene defect leading to malfunction of the enzyme propionyl-CoA carboxylase (PCC) and in turn to a pathologic accumulation of propionic acid. Many mutations have been found at the molecular genetic level over the past 20 years, and their implica...

Read the complete abstract on PubMed

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Metabolism, Inborn Errors

Share to Methylmalonyl-CoA Decarboxylase

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Source

Identifiers

PMID: 17415538
DOI: 10.1007/s00106-007-1560-6

Genes

PCCB
PCCA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17415538-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.Semantic proximity Read ↗

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.Semantic proximity Read ↗

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