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Article

Persistent hypermethioninaemia with dominant inheritance.

Journal of inherited metabolic disease - 1 Jan 1992

Blom H J, Davidson A J, Finkelstein J D, Luder A S, Bernardini I, Martin J J, Tangerman A, Trijbels J M, Mudd S H, Goodman S I

Abstract excerpt

A clinically benign form of persistent hypermethioninaemia with probable dominant inheritance was demonstrated in three generations of one family. Plasma methionine concentrations were between 87 and 475 mumol/L (normal mean 26 mumol/L; range 10-40 mumol/L); urinary methionine and homocystine concentrations were normal. Plasma homocystine, cystathionine, cystine and tyrosine were virtually normal. The...

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PMID: 1527987
DOI: 10.1007/BF01799629

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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