Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3-yr-old boy was investigated for numerous episodes of fatigue, irritability, pallor, and sweating, which began at 11 mo of age, when he had an episode of symptomatic hypoglycemia with ketonuria. He had euphoria, mental confusion, drowsiness, nausea, and vomiting 1-5 hr after oral administration of glycerol in doses of 0.5-1.0gm/kg. Orally administered MCT (1 gm/kg) had similar effects. On one occasion, oral glycerol also provoked hypoglycemia, as had a 16 1/2 hr fast. Intravenously administered glycerol (0.09 gm/kg) induced an immediate loss of consciousness from which he recovered spontaneously after 30 min; there were no changes in blood glucose values. Intravenously administered fructose (0.25 gm/kg) was tolerated normally. Leukocytes showed normal activities for FDPase, glycerol kinase, and glycerol phosphate dehydrogenase. The restriction of dietary intake of fat has been associated with a marked improvement in physical and mental activities. These observations suggest a unique, yet undifined intolerance to glycerol, which suggest caution in the diagnostic use of glycerol in the investigation of hypoglycemia as well as in the therapy of increased intracranial or intraocular pressure.
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PMID:Glycerol intolerance in a child with intermittent hypoglycemia. 16 54

We describe the case of a 10-year-old boy who had been admitted on several occasions with a diagnosis of gastroenteritis. He had been severely ill, and on one occasion lost consciousness. He had a metabolic acidosis on these occasions. Examination of the urine by gas chromatography-mass spectrometry showed a large peak, identified as glycerol. The concentration of glycerol in the urine was 40-280 mmol/L and the concentration in plasma about 2 mmol/L. He was subjected to a fast of 21 h, at the end of which he expressed feelings of discomfort and nausea, began vomiting, and became somnolent. During this period the blood glucose concentration was only slightly decreased, the plasma glycerol concentration increased to 4.9 mmol/L, and the plasma lactate concentration increased to 3.8 mmol/L. During work on a bicycle ergometer for 35 min (40 W) he complained of muscle pain and became nauseated, but there was no significant increase in the concentration of plasma glycerol. The activity of glycerol kinase (EC 2.7.1.30) in leukocytes and cultured fibroblasts was less than 1% of the value for healthy subjects.
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PMID:Deficiency of glycerol kinase (EC 2.7.1.30). 629 16

Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of vomiting, acidemia, mental retardation, or stupor. Involvement of the AHC gene can produce life-threatening adrenal insufficiency, sexual ambiguity, and electrolyte abnormalities. These associated conditions can make the diagnosis of DMD difficult. Neuromuscular specialists need to be aware of this contiguous gene syndrome because the potential life-threatening complications of GKD and AHC can be treated.
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PMID:Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome. 1907 86