Hypoparathyroidism in mitochondrial trifunctional protein deficiency

J Pediatr. 1996 Jul;129(1):159-62. doi: 10.1016/s0022-3476(96)70206-8.

Abstract

Mitochondrial trifunctional protein deficiency, a recently identified disorder of fatty-acid oxidation, may show characteristic features such as peripheral neuropathy, pigmentary retinopathy, and acute fatty liver degeneration in pregnant women with an affected fetus. We describe a patient with trifunctional protein deficiency whose clinical picture consisted of severe calcium and phosphate abnormalities caused by hypoparathyroidism.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Humans
  • Hypocalcemia / blood
  • Hypocalcemia / etiology*
  • Hypocalcemia / therapy
  • Hypoparathyroidism / blood
  • Hypoparathyroidism / complications*
  • Infant
  • Mitochondrial Trifunctional Protein
  • Multienzyme Complexes / deficiency*
  • Phosphates / blood*

Substances

  • Multienzyme Complexes
  • Phosphates
  • Mitochondrial Trifunctional Protein

Grants and funding