Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.

Retinopathy

Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.

Total: 2

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PMID (PMCID)
9403664	MALE	Infant
	Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
	Tyni T, Rapola J, Palotie A, Pihko H. J Pediatr. 1997;131(5):766-8.
	LCHAD deficiency usually manifests as hypoglycemia, with hepatopathy, hypotonia, cardiomyopathy, and retinopathy.
9535636	FEMALE
	Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
	Lawlor DP, Kalina RE. Am J Ophthalmol. 1997;123(6):846-8.
	An excess of long chain and very long chain fatty acid intermediates has been postulated as the cause of the retinopathy in long chain 3-hydroxyacyl-CoA dehydrogenase deficiency and the biochemically related peroxisomal disorders.