Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0021933 (
intussusception
)
3,822
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Medium-chain
Acyl-CoA dehydrogenase deficiency
(MCAD) is one of the most common fatty acid oxidation disorders. Clinical manifestations can be serious and lead to death if unrecognized. They are not specific and can mimic meningitis or an acute intestinal
intussusception
in its neurological form. Early recognition of MCAD and presymptomatic treatment of intercurrent illness improve the prognosis over the short- and long-term. MCAD deficiency satisfies the major criteria for newborn screening. We report the cases of 2 patients whose presentation was typical and severe. Early diagnosis of MCAD deficiency helped to start a simple treatment in both patients aimed at preventing further decompensation.
...
PMID:[Infant coma in the emergency department: 2 cases of MCAD deficiency]. 2043 92
