[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 prenatal diagnosis are discussed.
Golterman
L K
LK
Afd. Kindergeneeskunde, Academisch Ziekenhuis Leiden.
Maaswinkel-Mooy
P D
PD
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003579:Cytochrome Reductases / Q000172:deficiency; D042966:Cytochrome-B(5) Reductase; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications; D008708:Methemoglobinemia / Q000150:complications / Q000209:etiology / Q000235:genetics*; D013577:Syndrome
D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase
Een zuigeling met erfelijke methemoglobinemie.