New variant of cytochrome b5 reductase deficiency (b5RKurashiki) in red cells, platelets, lymphocytes, and cultured fibroblasts with congenital methemoglobinemia, mental and neurological retardation, and skeletal anomalies.

doi:10.1002/ajh.2830400411

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Article

New variant of cytochrome b5 reductase deficiency (b5RKurashiki) in red cells, platelets, lymphocytes, and cultured fibroblasts with congenital methemoglobinemia, mental and neurological retardation, and skeletal anomalies.

American journal of hematology - 1 Aug 1992

Yawata Y, Ding L, Tanishima K, Tomoda A

Abstract excerpt

A Japanese man with cytochrome b5 reductase (b5R) deficiency in various blood cell lineages (red cells, platelets, and lymphocytes) and in cultured fibroblasts demonstrated congenital methemoglobinemia associated with mental and neurological retardation, and various skeletal anomalies, such as spondylosis deformans and finger joint deformations, which have never been described in association with this enzyme...

Topics

Adult
Blood Platelets
Cells, Cultured
Cytochrome Reductases
Cytochrome-B(5) Reductase
Dihydrolipoamide Dehydrogenase
Electrophoresis, Polyacrylamide Gel
Erythrocytes
Fibroblasts
Finger Joint

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Variation

Humans

Intellectual Disability

Lymphocytes

Male

Methemoglobinemia

NADH, NADPH Oxidoreductases

Phenotype

Source

Open in PubMed

Identifiers

PMID: 1503085
DOI: 10.1002/ajh.2830400411

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1503085-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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