title: Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
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.
authors: Department of Metabolism, Bambino Gesù Hospital Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
authors: C
authors: C
authors: Dionisi-Vici
authors: B
authors: B
authors: Garavaglia
authors: A B
authors: AB
authors: Burlina
authors: E
authors: E
authors: Bertini
authors: I
authors: I
authors: Saponara
authors: G
authors: G
authors: Sabetta
authors: F
authors: F
authors: Taroni
mesh_terms: D005260:Female; D006801:Humans; D006996:Hypocalcemia / Q000097:blood / Q000209:etiology* / Q000628:therapy; D007011:Hypoparathyroidism / Q000097:blood / Q000150:complications*; D007223:Infant; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000172:deficiency*; D010710:Phosphates / Q000097:blood*
chemical_list: D009097:Multienzyme Complexes; D010710:Phosphates; D063991:Mitochondrial Trifunctional Protein