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Article

An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait.

Brain & development - 1 Aug 2002

Al Tawari Asma A, Ramadan Dina G, Neubauer David, Heberle Lada Cindro, Al Awadi Fatema

Abstract excerpt

Methylenetetrahydrofolate reductase deficiency (MTHFR) is a rare autosomal recessive disorder. There have been 68 cases reported to date in the literature [Eur J Pediatr 1998;157 (Suppl 2):S77]. It affects intracellular folate metabolism and results in homocystinuria and hypomethionemia. We report a family in which three children (two boys and one girl) died before the age of 3 months with severe MTHFR...

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Identifiers

PMID: 12142069
DOI: 10.1016/s0387-7604(02)00062-1

Genes

MTHFR

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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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