Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162275 (ketonuria)
 553 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 21-month-old infant developed coma with hypotonia during a viral infection. Acyl CoA dehydrogenase deficiency was diagnosed on the basis of results of the chromatographic study of organic acids performed on a urine specimen collected during the acute episode. However, other disorders of mitochondrial and fatty acid oxygenation can generate similar symptoms. Emphasis is put on the need for collecting urine specimens in patients who develop alterations in consciousness and hypoglycemia without ketonuria during prolonged fasting or repeated vomiting due to a viral infection. Urine chromatography can suggest which enzyme is defective, although the diagnosis should always be confirmed by a study of fatty acid oxygenation in lymphocytes or fibroblasts.
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PMID:[Deficiency in medium chain acyl coA dehydrogenase manifested as febrile coma]. 834 83

A 21-month-old previously healthy girl presented to the emergency department initially with fever, rhinorrhea, and poor oral intake. She was subsequently discharged from the hospital on amoxicillin for treatment of acute otitis media but presented hours later on the same day with continued poor oral intake, decreased urine output, and lethargy. The patient was afebrile on examination without a focal source of infection or evidence of meningismus, but she was lethargic and minimally responsive to pain and had reduced strength in the upper and lower extremities. Initial laboratory analysis revealed leukocytosis with a neutrophil predominance and bandemia, hyponatremia, mild hyperkalemia, hyperglycemia, elevated transaminases, a mild metabolic acidosis, glucosuria, ketonuria, and hematuria. Follow-up tests, based on the history and results of the initial tests, were sent and led to a surprising diagnosis.
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PMID:A Healthy Toddler With Fever and Lethargy. 3095 80