[Complex glycerol kinase deficiency in three children].
Glycerol kinase deficiency (GKD), a rare X-linked recessive disorder, is classified into two types: isolated and complex. Complex GKD is an Xp21 contiguous gene deletion involving the glycerol kinase locus together with the adrenal hypoplasia congenita (AHC) or Duchenne muscular dystrophy (DMD) loci or both. Its clinical features depend on the involved loci. GKD can be confirmed by an elevated urinary glycerol concentration tested by gas chromatography mass spectrometry (GC/MS). The three cases reported here were all male, presenting symptoms from neonatal period. The predominant clinical profile was characterized by hypoadrenocorticism, glyceroluria and Duchenne muscular dystrophy. After receiving a low fat diet and glucocorticoid replacement, they improved with relieved symptoms of hypoadrenocorticism. But they had significant developmental delays and myasthenia. In the follow-up two of them died of adrenal crisis.
Li
Xiu-Zhen
XZ
Department of Endocrinology and Metabolism, Guangzhou Children's Hospital, Guangzhou 510120, China.
Liu
Li
L
Mei
Hui-Fen
HF
D000309:Adrenal Insufficiency / Q000175:diagnosis; D003937:Diagnosis, Differential; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000628:therapy; D005990:Glycerol / Q000652:urine; D005991:Glycerol Kinase / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male
D005991:Glycerol Kinase; D005990:Glycerol