Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations.

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Article

Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations.

American journal of human genetics - 1 Mar 1991

Kang S S, Wong P W, Bock H G, Horwitz A, Grix A

Abstract excerpt

Four subjects with thermolabile methylenetetrahydrofolate reductase (MTHFR) were discovered among 16 "obligate" heterozygotes for severe MTHFR deficiency and their family members. All four subjects had less than 25% of normal mean MTHFR specific activity in lymphocyte extracts. Three of them with normal serum folate and cyanocobalamin had intermediate hyperhomocysteinemia, and one with high serum folate and...

Topics

Adolescent
Adult
Alleles
Amino Acid Metabolism, Inborn Errors
Enzyme Activation
Female
Folic Acid
Heterozygote
Homocysteine
Hot Temperature
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Lymphocytes

Male

Methylenetetrahydrofolate Reductase (NADPH2)

Mutation

Oxidoreductases Acting on CH-NH Group Donors

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 1998340
PMCID: PMC1682989

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1998340-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations.PMID 1998340Read ↗

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