Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of beta galactosidase deficiency is described in a 20-month-old boy. The child was hospitalized at 4 months of age for malabsorption syndrome. Biopsies of the small intestine and liver were performed and electron microscopy of the liver specimens strongly suggested a gangliosidosis. The cytoplasm of macrophages, Kupffer cells and hepatocytes contained membrane-bound lysosomes with a granular, fibrillar appearance and tubular structures interpreted as ganglioside deposits. Enzymatic deficiency was confirmed by biochemical investigation of leukocytes from both the patient and members of his immediate family. Although visceromegaly is typical of Landing disease, symptoms of malabsorption and hypertension have not been reported in its course.
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PMID:Landing disease, GM1 generalized gangliosidosis, and malabsorption syndrome. 250 73