Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.

Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic facies, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children with congenital adrenal hypoplasia and glycerol kinase deficiency.

[1]  M. Pembrey,et al.  DELETION ON THE X CHROMOSOME DETECTED BY DIRECT DNA ANALYSIS IN ONE OF TWO UNRELATED BOYS WITH GLYCEROL KINASE DEFICIENCY, ADRENAL HYPOPLASIA, AND DUCHENNE MUSCULAR DYSTROPHY , 1986, The Lancet.

[2]  S. Patil,et al.  Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. , 1986, The Journal of pediatrics.

[3]  S. Murayama,et al.  Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome , 1986, Clinical genetics.

[4]  E. McCabe,et al.  Glycerol kinase deficiency: compartmental considerations regarding pathogenesis and clinical heterogeneity. , 1986, Advances in experimental medicine and biology.

[5]  B. Wieringa,et al.  Complex glycerol kinase deficiency syndrome explained as X‐chromosomal deletion , 1985, Clinical genetics.

[6]  E. McCabe,et al.  Adrenal dysfunction in glycerol kinase deficiency. , 1985, Biochemical medicine.

[7]  K. Davies,et al.  PRENATAL EXCLUSION OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY BY DIRECT GENE ANALYSIS , 1985, The Lancet.

[8]  R. Brookwell,et al.  PROPOSED ASSIGNMENT OF LOCI FOR X-LINKED ADRENAL HYPOPLASIA AND GLYCEROL KINASE GENES , 1985, The Lancet.

[9]  E. Ginns,et al.  A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor. , 1984, The Journal of pediatrics.

[10]  F. Gabreëls,et al.  Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs , 1983, Clinical genetics.

[11]  L. von Wendt,et al.  Deficiency of glycerol kinase (EC 2.7.1.30). , 1983, Clinical chemistry.

[12]  J. Bartley,et al.  CONCORDANCE OF X-LINKED GLYCEROL KINASE DEFICIENCY WITH X-LINKED CONGENITAL ADRENAL HYPOPLASIA , 1982, The Lancet.

[13]  D. Néel,et al.  'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency. , 1982, Clinica chimica acta; international journal of clinical chemistry.

[14]  I. Hay,et al.  Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure. , 1981, Archives of disease in childhood.

[15]  A. Prader,et al.  Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia. , 1980, The Journal of pediatrics.

[16]  E. McCabe,et al.  Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities , 1980, Annals of neurology.

[17]  P. Hensleigh,et al.  Congenital X-linked adrenal hypoplasia. , 1978, Obstetrics and gynecology.

[18]  E. McCabe,et al.  Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. , 1977, Biochemical and biophysical research communications.

[19]  N. V. O'Donohoe,et al.  Familial congenital adrenal hypoplasia. , 1968, Archives of disease in childhood.

[20]  H. D. Mosier,et al.  Hypoplasia of the pituitary and adrenal cortex , 1956 .