Triglyceride storage disease. A report of two affected children associated with neurological abnormalities.
Two children are described with congenital abnormalities (microcephaly, nystagmus, deafness, hepatomegaly) and the anomalous feature of triglyceride deposits in peripheral adipose tissue associated with severe malnutrition. Peripheral adipose tissue of one of these children displayed: (a) reduced sensitivity of adenyl cyclase to stimulation by noradrenaline (b) no response in tissue levels of cyclic AMP when stimulated by isoprenaline and (c) impaired release of glycerol following stimulation with isoprenaline. The other child, with similar clinical features, showed abnormal deposits of glycogen in the liver. It is postulated that a primary metabolic defect occurs in peripheral adipose tissue (and possibly at other sites such as the liver) that interferes with triglyceride (and glycogen) mobilization during prolonged malnutrition.
D000015:Abnormalities, Multiple; D000273:Adipose Tissue / Q000378:metabolism*; D002675:Child, Preschool; D000242:Cyclic AMP / Q000378:metabolism; D003638:Deafness / Q000209:etiology*; D005260:Female; D005990:Glycerol / Q000378:metabolism; D006529:Hepatomegaly / Q000209:etiology*; D006801:Humans; D007223:Infant; D007545:Isoproterenol / Q000494:pharmacology; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications*; D008112:Liver Glycogen / Q000378:metabolism; D008297:Male; D008831:Microcephaly / Q000209:etiology*; D009759:Nystagmus, Pathologic / Q000209:etiology*; D014280:Triglycerides / Q000378:metabolism*
D008112:Liver Glycogen; D014280:Triglycerides; D000242:Cyclic AMP; D007545:Isoproterenol; D005990:Glycerol