Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 8757579.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Hypocalcemia
- Hypoparathyroidism
- Multienzyme Complexes
- Phosphates