Congenital Adrenal Hypoplasia and Glycerol Kinase Deficiency
- 1 November 1989
- journal article
- research article
- Published by Wiley in Acta Paediatrica
- Vol. 78 (6) , 893-895
- https://doi.org/10.1111/j.1651-2227.1989.tb11170.x
Abstract
An unusual care of salt-wasting in a male infant is reported. The cause was a small X-chromosomal deletion within Xp21 resulting in the syndrome congenital adrenal hypoplasia with glycerol kinase deficiency. This syndrome can readily be diagnosed by routine biochemical tests.Keywords
This publication has 6 references indexed in Scilit:
- Phenotypic Features of Patients With Congenital Adrenal Hypoplasia and Glycerol Kinase DeficiencyArchives of Pediatrics & Adolescent Medicine, 1987
- CONGENITAL ADRENAL HYPOPLASIA, MYOPATHY, AND GLYCEROL KINASE-DEFICIENCY - MOLECULAR GENETIC-EVIDENCE FOR DELETIONS1987
- Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.Journal of Medical Genetics, 1986
- PROPOSED ASSIGNMENT OF LOCI FOR X-LINKED ADRENAL HYPOPLASIA AND GLYCEROL KINASE GENESThe Lancet, 1985
- ‘Pseudohypertriglyceridemia’ caused by hyperglycerolemia due to congenital enzyme deficiencyClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalitiesAnnals of Neurology, 1980