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

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

The Journal of clinical investigation - 1 Jun 1994

Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouzé P, Munnich A, Rötig A, Landrieu P, Rustin P

Abstract excerpt

We report an inborn error of the tricarboxylic acid cycle, fumarase deficiency, in two siblings born to first cousin parents. They presented with progressive encephalopathy, dystonia, leucopenia, and neutropenia. Elevation of lactate in the cerebrospinal fluid and high fumarate excretion in the u...

Topics

Amino Acid Sequence
Brain Diseases
Carbohydrate Metabolism, Inborn Errors
Citric Acid Cycle
DNA, Complementary
Female
Fumarate Hydratase
Humans
Infant, Newborn
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 8200987
DOI: 10.1172/JCI117261
PMCID: PMC294471

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8200987-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.PMID 8200987Read ↗

Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer.Semantic proximity Read ↗

Molecular and biochemical investigations in fumarase deficiency.Semantic proximity Read ↗

Molecular Analysis and Prenatal Diagnosis of Human Fumarase DeficiencySemantic proximity Read ↗

Fumarase deficiency in dichorionic diamniotic twins.Semantic proximity Read ↗

Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case.Semantic proximity Read ↗

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.Semantic proximity Read ↗

A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.Semantic proximity Read ↗

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.Semantic proximity Read ↗

A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).Semantic proximity Read ↗

ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.Semantic proximity Read ↗

Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review.Semantic proximity Read ↗

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.Semantic proximity Read ↗

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