Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation.

doi:10.1023/a:1022829214415

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Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation.

Journal of inherited metabolic disease - 1 Dec 2002

Kim S Z, Santamaria E, Jeong T E, Levy H L, Mato J M, Corrales F J, Mudd S H

Abstract excerpt

Two Korean sisters, one detected during neonatal screening, the other ascertained at age 3 years during family screening, have persistent hypermethioninaemia without elevation of plasma tyrosine or severe liver disease. Plasma total homocysteine (tHcy) is mildly elevated, but not so markedly as to establish a diagnosis of homocystinuria due to cystathionine beta-synthase (CBS) deficiency. CBS deficiency was ruled...

Topics

Amino Acids
Biomarkers
DNA
DNA Mutational Analysis
Diet
Female
Gene Expression Regulation, Enzymologic
Heterozygote
Humans
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Isoenzymes

Korea

Liver

Liver Function Tests

Methionine

Methionine Adenosyltransferase

Mutation

Source

Open in PubMed

Identifiers

PMID: 12705496
DOI: 10.1023/a:1022829214415

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