Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare autosomal recessive disorder with varied expression, from severe hypoglycemia and possible sudden infant death to neurosensory deficits secondary to the acute onset. The neurosensory deficits can include clinical features such as seizure disorders, mental retardation, neuropathy, and retinopathy. The basic defect is the lack of the LCHAD enzyme in the liver, which is necessary for fatty acid metabolism. The condition is usually precipitated by infection and dehydration. A case example of a preschooler with LCHAD deficiency is presented to show the complexity of this disorder and resultant developmental disabilities. Implications for nursing practice, education, and research are discussed in relation to the needs of families with complex, developmental disabilities.
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PMID:Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. 1063 50

3-Hydroxyacyl-CoA dehydrogenase (HAD) functions in mitochondrial fatty acid beta-oxidation by catalyzing the oxidation of straight chain 3-hydroxyacyl-CoAs. HAD has a preference for medium chain substrates, whereas short chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) acts on a wide spectrum of substrates, including steroids, cholic acids, and fatty acids, with a preference for short chain methyl-branched acyl-CoAs. Therefore, HAD should not be referred to as SCHAD. SCHAD is not a member of the HAD family, but instead, belongs to the short chain dehydrogenase/reductase superfamily. Previously reported cases of SCHAD deficiency are due to an inherited HAD deficiency. SCHAD, also known as 17beta-hydroxysteroid dehydrogenase type 10, is important in brain development and aging. Abnormal levels of SCHAD in certain brain regions may contribute to the pathogenesis of some neural disorders. The human SCHAD gene and its protein product, SCHAD, are potential targets for intervention in conditions, such as Alzheimer's disease, Parkinson's disease, and an X-linked mental retardation, that may arise from the impaired degradation of branched chain fatty acid and isoleucine.
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PMID:3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. 1617 62