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Article

CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.

Journal of inherited metabolic disease - 1 Jan 2003

Vilaseca M A, Vilarinho L, Zavadakova P, Vela E, Cleto E, Pineda M, Coimbra E, Suormala T, Fowler B, Kozich V

Abstract excerpt

Patients with the cblE type of homocystinuria usually present with megaloblastic anaemia, feeding difficulties, developmental delay and cerebral atrophy. We present a 14-year-old Spanish girl (patient 1) and a 10-year-old Portuguese boy (patient 2) with cblE disease and mild clinical phenotype. The main clinical feature in both patients was persistent megaloblastic anaemia observed at 3 years and at 2 months of...

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Source

Identifiers

PMID: 12971424
DOI: 10.1023/a:1025159103257

Genes

MTRR

Variants

Provenance

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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