Glycerol kinase deficiency

Specimen contamination may not be immediately apparent on visual inspection. A large peak of glycerol, especially in a female newborn or infant, should be considered an artifact at first and verified by a repeat specimen before raising the possibility of glycerol kinase deficiency. Medium- and long-chain monocarboxylic fatty acids (Cio-Ci8) could be very prominent peaks in a urine profile following contamination... 

Guggenheim MA, McCabe ER, Roig M, Goodman SI, Lum GM, Bullen WW, Ringel SP (1980) Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. Ann Neurol 7 441-449... 

McCabe ER, Fennessey PV, Guggenheim MA, Miles BS, Bullen WW, Sceats DJ, Goodman SI (1977) Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. Biochem Biophys Res Commun 78 1327-1333... 

McCabe ER, Sadava D, Bullen WW, McKelvey HA, Seltzer WK, Rose Cl (1982) Human glycerol kinase deficiency enzyme kinetics and fibroblast hybridization. J Inherit Metab Dis... 

Sjarif DR, Hellerud C, van Amstel JK, Kleijer WJ, Sperl W, Lacombe D, Sass JO, Beemer FA, Duran M, Poll-The (2004) Glycerol kinase deficiency residual activity explained by reduced transcription and enzyme conformation. Eur J Hum Genet 12 424-432... 

Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ERB (2007) Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays. Hum Mutat 28 235-242... 

Adrenal hypoplasia Glycerol kinase deficiency Chronic granulomatous disease Retinitis pigmentosa-3 Duchenne muscular dystrophy Becker muscular dystrophy... 

Disorders of glycerol metabolism. Glycerol is converted to glycerol-3-phosphate by the hepatic enzyme glycerol kinase deficiency results in episodic vomiting, lethargy and hypotonia. Glycerol kinase deficiency is X-hnked. 

Glycerol kinase deficiency HMG-CoA lyase deficiency Methylmalonic aciduria Mitochondrial disorders 2-oxoadipic aciduria Propionic aciduria Additional causes Bacterial production MCT containing formulas Riboflavin deficiency (acquired)... 

Glycerol kinase deficiency (GKD) is the only disorder of glycerol metabolism for which the biochemical defect is known and well-characterized [1]. Glycerol intolerance syndrome (GIS) is poorly characterized and appears to be associated, at least in part, with fructose-1,6-diphosphatase deficiency [2-5]. Among individuals with GKD, there are three distinct clinical phenotypes, the complex form (17.1.1) and two subtypes of the isolated form -symptomatic (juvenile, 17.1.2) and benign (adult, 17.1.3) [1]. 

The benign form (Adult GKD, 17.1.3) of isolated glycerol kinase deficiency is not associated with the episodic metaboUc and CNS deteriorations seen with the other forms. Males with this biochemical phenotype are identified incidentally with pseudohypertriglyceridemia, when routine laboratory studies incorrectly identify the elevated free glycerol concentration in their blood as triglycerides [1]. These individuals have increased levels of glycerol in blood and urine and may be at increased risk of type 2 diabetes mellitus [16]. 

Glycerol kinase deficiency (17.hi, 17.1.2, and 17.1.3) Leukocytes, lymphoblastoid cells, fibroblasts, liver, kidney, small intestine, adrenal, cultured amniocytes Xp21 307030... 

E. R. B. McCabe, J. Towbin, J. Chamberlain, L. Baumbach, J. Witkowski, G. J. B. van Ommen, M. Koenig, L. M. Kunkel, and W. K. Seltzer Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency and congenital adrenal hypoplasia. J Clin Invest 83 95-99, 1989. 

A. Scheuerle, F. Greenberg, and E. R. B. McCabe Dysmorphic features in patients with complex glycerol kinase deficiency. J Pediat 126 764-767, 1995. 

K. C. Worley, E. A. Lindsay, W. Bailey, J. Wise, E. R. B. McCabe, and A. Baldini. Rapid molecular cytogenetic analysis of X-chromosomal microdeletions fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency. Amer J Med Genet 57 615-619, 1995. 

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