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ENZYMOPENIC METHEMOGLOBINEMIA AND SPASTIC DIPLEGIA IN AN ITALIAN‐YUGOSLAVIAN CHILD
Author(s) -
Agar N. S.,
Irvine Susan,
Davis J. R.,
Harley J. D.
Publication year - 1972
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1972.tb47389.x
Subject(s) - spastic diplegia , asymptomatic , methemoglobinemia , nicotinamide adenine dinucleotide , medicine , pediatrics , endocrinology , cerebral palsy , anesthesia , physical therapy , chemistry , nad+ kinase , biochemistry , enzyme
A child of Italian and Yugoslavian origin with chronic, mild methaemoglobinaemla and spastic diplegia has been shown to be homozygous for reduced nicotinamide adenine dinucleotide (NADH)‐dependent methaemoglobin reductase deficiency. Cyanosis was apparent in the neonatal period, overt during a course of sulphonamide therapy, but otherwise slight and intermittent; heterozygous members of the family are asymptomatic.