An infant with hereditary methemoglobinemia

• Published in: Tijdschrift voor kindergeneeskunde Vol. 57; no. 2; p. 60
• Main Authors: Golterman, L K, Maaswinkel-Mooy, P D
• Format: Journal Article
• Language: Dutch
• 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

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...