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Article

Severe infantile hypotonia with ethylmalonic aciduria: case report.

Journal of child neurology - 1 Jun 2008

Okuyaz Cetin, Ezgü Fatih Süheyl, Biberoglu Gürsel, Zeviani Massimo, Tiranti Valeria, Yilgör Esat

Abstract excerpt

An 8-month-old girl was admitted to an outpatient clinic with significant hypotonia and weakness. Organic acid analysis in urine revealed a significant increase in ethylmalonic acid. A deoxyribonucleic analysis revealed the presence of a 625G>A (G-to-A substitution at nucleotide 625) variant short-chain acyl-coenzyme A dehydrogenase gene polymorphism. With the clinical, biochemical and molecular findings,...

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Identifiers

PMID: 18539996
DOI: 10.1177/0883073807313048

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 8 closest

Severe infantile hypotonia with ethylmalonic aciduria: case report.PMID 18539996Read ↗

Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation.Semantic proximity Read ↗

A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition.Semantic proximity Read ↗

Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn.Semantic proximity Read ↗

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.Semantic proximity Read ↗

An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.Semantic proximity Read ↗

[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].Semantic proximity Read ↗

Zellweger Syndrome: A Case Report.Semantic proximity Read ↗

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