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Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation.
M J Bennett, S D Spotswood, K F Ross, S Comfort, R Koonce, R L Boriack, L IJlst, R J Wanders,
This report describes the clinical, biochemical, and pathological findings in three infants with hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase (SCHAD) deficiency, a recently recognized disorder of the mitochondrial oxidation of straight-chain fatty acids. Candidate subjects were identified from an ongoing study of infant deaths. SCHAD analysis was performed on previously frozen liver and skeletal muscle on subjects with a characteristic urine organic acid profile. Autopsy findings were correlated with the biochemical abnormalities. Enzyme analysis in liver revealed marked deficiency in SCHAD with residual activities of 3-11%. All subjects had normal activity in skeletal muscle. However, Western blot analysis of SCHAD revealed an identical truncated protein in both liver and muscle from one patient, suggesting that SCHAD is similar in liver and muscle and that the normal activity in muscle may be due to other enzymes with C4 activity. Autopsy findings revealed marked steatosis and a muscle pattern consistent with spinal muscular atrophy in one patient. Lipid storage was less pronounced in one patient and not detected in the third patient who had a well-documented history of recurrent hypoglycemia. This is the initial pathological characterization of this enzyme defect, and our observations suggest that SCHAD deficiency is a very severe disorder contributing to early infant death.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society -
Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.
M J Bennett, M J Weinberger, J A Kobori, P Rinaldo, A B Burlina,
We describe two children with deficiency of short-chain L-3-hydroxyacyl-CoA dehydrogenase, a new disorder of the mitochondrial beta-oxidation of straight-chain fatty acids. The patients presented with fasting-induced vomiting, and ketosis and low blood glucose, features typical of ketotic hypoglycemia were documented in one. Enzyme assays were performed in cultured skin fibroblasts. In whole fibroblast preparations there was reduced enzyme activity but high residual activity due to the presence of a nonmitochondrial enzyme. In isolated fibroblast mitochondria the residual enzyme activities were 5 and 6% of the normal controls. Activity in an obligate heterozygote was intermediate, suggesting that this is an autosomal recessive disorder.
Pediatric research - Jan 1996
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
Esmeralda Martins, M Luis Cardoso, Esmeralda Rodrigues, Clara Barbot, Altina Ramos, Michael J Bennett, Elisa Leão Teles, Laura Vilarinho,
Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. The main clinical presentation of this metabolic disease is different from other inherited defects of fatty acid β-oxidation as the hypoglycemia is associated with hyperinsulinism. We present the clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency. These new cases contribute to a more comprehensive description of the phenotype, diagnostic biomarkers and treatment options for this poorly defined disease.
Journal of inherited metabolic disease - Jun 2011