Glycerol kinase deficiency occurs either as a relatively benign isolated enzyme deficiency, or as part of a syndrome resulting from a microdeletion in the p21 region of the X chromosome associated with congenital adrenal hypoplasia and/or Duchenne muscular dystrophy. Developmental delay is a consistent feature of the microdeletion syndrome but not of the isolated enzyme defect. We report a case of isolated glycerol kinase deficiency in a neonate presenting with hypotonia, apnea, mild developmental delay, and glyceroluria, without evidence of adrenal insufficiency or myopathy. A mild communicating hydrocephalus was noted on magnetic resonance imaging brain scan. It is important, therefore, to exclude glyceroluria in infants being investigated for apnea and hypotonia. (J Child Neurol 1994;9:70-73).
Get full access to this article
View all access options for this article.
References
1.
McCabe ER : Disorders of glycerol metabolism, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease. New York, McGraw-Hill , 1989, pp 945-961.
2.
Matsumoto T. , Kondoh T., Yoshimoto M., et al: Complex glycerol kinase deficiency: Molecular-genetic, cytogenetic, and clinical studies of five Japanese patients . Am J Med Genet1988 ;31: 603-616.
3.
Towbin JA, Wu D., Chamberlain J., et al: Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus. Hum Genet1989;83:122-126.
4.
Pillers DM, Weleber RG, Powell BR, et al: Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. Am J Med Genet1990;36:23-28.
5.
Stuhrmann M. , Heilbronner H., Reis A., et al: Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita. Hum Genet1991;86:414-415.
6.
Sakura N., Nishimura S., Kawahara N., et al: Asthma as the first presenting symptom of complex glycerol kinase deficiency. Acta Paediatr Scand1991;80:723-725.
7.
Ginns EI, Barranger JA, McClean SW, et al: Juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia and stupor. J Pediatr1984; 104:736-739.
8.
Eriksson A. , Lindstedt S., Ransnas L., von Wendt L.:Deficiency of glycerol kinase (EC 2.7.1.30) . Clin Chem1983;29:718-722.
9.
Rose CI, Haines DS: Familial hyperglycerolemia. J Clin Invest1978;61:163-170.
10.
Goussault Y. , Turpin E., Neel D., et al: "Pseudohypertriglyceridemia" caused by hyperglycerolemia due to congenital enzyme deficiency. Clin Chim Acta1982;123:269-274.
11.
Pometta D., Suenram A., Von der Weid N, Widman JJ: Liver glycerokinase deficiency in a man with hyperglycerolaemia and hypertriglyceridaemia. Eur J Clin Invest1984;14:103-106.
12.
Wirth A., Heuck CC, Bieger W., Schlierf G.: Pseudo-Hypertriglyceridamie bei glycerokinase-mangel. Dtsch Med Wochenschr1985;110:843-847.
13.
McCabe ER, Fennessey PV, Guggenheim MA, et al: Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. Biochem Biophys Res Commun1977;78:1327-1333.
14.
Guggenheim MA, McCabe ER, Roig M., et al: Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. Ann Neurol1980; 7:441-449.
15.
Francke U., Harper JF, Darras BT, et al: Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: Molecular genetic evidence for deletions. Am J Hum Genet1987;40: 212-227.
16.
Wise JE, Matalon R., Morgan AM, et al: Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency. Am J Dis Child1987;141:744-747.
17.
Davies KE, Patterson MW, Kenwrick SJ, et al: Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome. Am J Med Genet1988;29:557-564.
18.
Emery AE: Duchenne Muscular Dystrophy: Oxford Monographs on Medical Genetics , no. 15. New York, Oxford University Press, 1987.
19.
Chamberlain JS, Pearlman JA, Muzny DM, et al: Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science1988;239:1416-1418.
20.
Jagadha V., Becker LE: Brain morphology in Duchenne muscular dystrophy: A golgi study. Pediatr Neurol1988;4:87-92.
21.
Bartley JA, Miller DK, Hayford JT, McCabe ER: The concordance of X-linked glycerol kinase deficiency with X-linked adrenal hypoplasia in two families. Lancet1982;2:733-736.
22.
McCabe ER: Human glycerol kinase deficiency: An inborn error of compartmental metabolism. Biochem Med1983;30:215-230.
23.
McCabe ER , Seltzer WK: Glycerol kinase deficiency: Compartmental considerations regarding pathogenesis and clinical heterogeneity, in Brautbar N (ed): Myocardial and Skeletal Muscle Bioenergetics. New York, Plenum, 1986, pp 481-493.
24.
Seltzer WK, McCabe ER: Subcellular distribution and kinetic properties of soluble and particulate-associated bovine adrenal glycerol kinase. Mol Cell Biochem1984;64:51-61.
