MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency.

doi:10.1177/088307389400900421

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Article

MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency.

Journal of child neurology - 1 Oct 1994

Higgins J J, Glasgow A M, Lusk M, Kerr D S

Abstract excerpt

We report a boy with a partial deficiency of pyruvate carboxylase as documented in enzyme assays of skin fibroblasts, lymphocytes, and hepatic tissue. Magnetic resonance imaging at age 20 months demonstrated a leukodystrophic process involving the brain stem and subcortical white matter, which, except for the brain stem, improved after biotin treatment. The lymphocyte pyruvate carboxylase activity of both...

Topics

Biotin
Brain
Brain Diseases, Metabolic
Child
Child, Preschool
Consanguinity
Fibroblasts
Follow-Up Studies
Humans
Infant
Infant, Newborn
Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Magnetic Resonance Imaging

Male

Neurologic Examination

Phenotype

Pyruvate Carboxylase

Pyruvate Carboxylase Deficiency Disease

Source

Open in PubMed

Identifiers

PMID: 7822739
DOI: 10.1177/088307389400900421

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7822739-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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