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Article

Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency.

American journal of medical genetics. Part A - 1 Mar 2020

Grocott Olivia, Phanor Sabrina K, Fung France, Thibert Ronald L, Berkmen Melanie B

Abstract excerpt

Fumarate hydratase deficiency (FHD) is a rare metabolic disease caused by two defective copies of the FH gene, which encodes the Krebs cycle enzyme fumarase. FHD is associated with brain and developmental abnormalities, seizures, and high childhood mortality. We describe the symptoms and treatment of a patient with FHD. While infantile spasms are common in FHD, the patient presented with epileptic spasms later in...

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Source

Identifiers

PMID: 31746132
DOI: 10.1002/ajmg.a.61415

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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.

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