Homozygous NADH-methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded sicilian child
- 1 December 1984
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 19 (4) , 643-650
- https://doi.org/10.1002/ajmg.1320190403
Abstract
We report on a 10‐year‐old boy with generalized deficiency of both NADH‐methemoglobin reductase and aspartylglucosaminidase. Althoug the two enzymatic defects, both autosomal recessive traits, are associated with severe mental retardation, the patient was less retarded than his sister who had only aspartyl‐glucosaminuria.Keywords
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