Scientific background:

Summary: HADH gene codes a mitochondrial enzymed involved in the metabolism of fatty acids. Deficiencies cause an abnormally hight insulin secretion in response to a protein rich diet. Two autosomal recessive disorders HADH deficiency and neonatal hyperinsulinemic hypoglycemia are allelic variants.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Carrier testing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	The test is only specific about the mutation already known in this kindred.

Literature: 

Bennett MJ et al. (1996) Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.
Bitar KG et al. (1980) Amino acid sequence of L-3-hydroxyacyl CoA dehydrogenase from pig heart muscle.
Clayton PT et al. (2001) Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.
He XY et al. (1989) Assay of L-3-hydroxyacyl-coenzyme A dehydrogenase with substrates of different chain lengths.
He XY et al. (1999) Identity of heart and liver L-3-hydroxyacyl coenzyme A dehydrogenase.
Molven A et al. (2004) Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Noyes BE et al. (1973) L-3-hydroxyacyl coenzyme A dehydrogenase from pig heart muscle. I. Purification and properties.
Noyes BE et al. (1973) L-3-hydroxyacyl coenzyme A dehydrogenase from pig heart muscle. I. Purification and properties.
Tein I et al. (1991) Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy.
Treacy EP et al. (2000) Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study.
Vidnes J et al. (1977) Glucagon deficiency causing severe neonatal hypoglycemia in a patient with normal insulin secretion.
Vredendaal PJ et al. (1996) Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence.
Vredendaal PJ et al. (1998) Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene.
Yang SY et al. (2005) 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.