An infant with hereditary methemoglobinemia

Autosomal recessive hereditary methemoglobinemia associated with mental retardation is a rare syndrome caused by a deficiency of the enzyme NADH cytochrome b5 reductase. A patient suffering from this disorder is described. The etiology of the syndrome and the (im)possibilities of treatment and prena...

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Bibliographic Details
Published inTijdschrift voor kindergeneeskunde Vol. 57; no. 2; p. 60
Main Authors Golterman, L K, Maaswinkel-Mooy, P D
Format Journal Article
LanguageDutch
Published Netherlands 01.04.1989
Subjects
Chromosome Aberrations
Chromosome Disorders
Cytochrome Reductases - deficiency
Cytochrome-B Reductase
Female
Genes, Recessive
Humans
Infant
Intellectual Disability - complications
Methemoglobinemia - complications
Methemoglobinemia - etiology
Methemoglobinemia - genetics
Syndrome
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Summary:Autosomal recessive hereditary methemoglobinemia associated with mental retardation is a rare syndrome caused by a deficiency of the enzyme NADH cytochrome b5 reductase. A patient suffering from this disorder is described. The etiology of the syndrome and the (im)possibilities of treatment and prenatal diagnosis are discussed.
ISSN:0376-7442