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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.

Hyperphosphatemia

An abnormally increased phosphate concentration in the blood.

Total: 1

(per page)

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.
	We now report on a patient with LCHAD deficiency and hypoparathyroidism, evidenced by hypocalcemia, hyperphosphatemia, and a low level of parathyroid hormone, in whom the parathyroid glands could not be located after death.