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A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor

✍ Scribed by Edward I. Ginns; John A. Barranger; Sharon W. McClean; Clara Sliva; Richard Young; Ernest Schaefer; Stephen I. Goodman; Edward R.B. McCabe


Book ID
119461024
Publisher
Elsevier Science
Year
1984
Tongue
English
Weight
321 KB
Volume
104
Category
Article
ISSN
1097-6833

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We report a 2-year-old boy with Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GK) and adrenal hypoplasia congenita (AHC). At three weeks of age, the patient was hospitalized for the first time with symptoms of hypotone dehydration because of AHC. At present, he shows severe muscular