Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.12.7.2 (hydrogenase)
 3,522 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three patients suffering from an absence of the enteric nervous system are reported. Two sisters presented with severe vomiting shortly after birth and dilatation of the intestine proximal to a stenosis. There was an absence of the enteric nervous system throughout the entire length of the intestine distal to the duodenum. A boy presenting an ileus was found to suffer from an aganglionosis of the entire colon. There was also an absence of neuronal bodies and nerve fibers in the small intestine. The final diagnosis was made by histochemical and immunocytochemical stains for acetylcholinesterase, lactate hydrogenase, neuron-specific enolase, protein S-100, and substance P. In the literature, 13 other patients have been reported. On the basis of differences of symptoms, incidence, sex ratio, genetics, and, presumably, pathogenesis between absence of the enteric nervous system and aganglionosis, it is assumed that the two diseases are separate entities.
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PMID:Absence of the enteric nervous system in the newborn: presentation of three patients and review of the literature. 351 82