Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017160 (gastroenteritis)
 11,398 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper documents a disease of Border Collies characterised by chronic neutropenia which probably resulted in recurrent bacterial infections manifesting as osteomyelitis and sometimes gastroenteritis. The neutropenia occurred despite hyperplasia of the myeloid cells in the bone marrow and a shift to the right in myeloid cell maturation. The underlying defect is currently unknown but may result from the inability of neutrophils to escape from the bone marrow into the peripheral circulation. Necrosis and new bone formation commonly involved the metaphyseal regions of long bones. Other findings included a fasting hypercholesterolaemia and the occasional presence of nucleated red blood cells in circulation, despite a non-regenerative anaemia. An autosomal recessive mode of inheritance is suspected. This condition has some features of a rare human disease called myelokathexis which is also believed to have in autosomal recessive mode of inheritance.
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PMID:Neutropenia with a probable hereditary basis in Border Collies. 1603 97

We report a patient with carnitine palmitoyltransferase I (CPT I) deficiency, who presented with acute encephalopathy at 6 months of age. This was precipitated by an episode of gastroenteritis. No hypoglycaemia was documented, but there was hepatomegaly; blood tests revealed raised transaminases, a coagulopathy and severe hypertriglyceridaemia (48.8 mmol/L) and hypercholesterolaemia (9.5 mmol/L). The hyperlipidaemia resolved within 3 days of treatment and did not recur. At 2 years of age, the patient's liver function, growth and development are all normal. Hyperlipidaemia has been reported during acute illness in previous patients with CPT I deficiency but it is not a well-recognized feature; it should alert metabolic specialists to this potential diagnosis.
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PMID:Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency. 1716 Jun 14