Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
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.
Dionisi-Vici
C
C
Department of Metabolism, Bambino Gesù Hospital Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Garavaglia
B
B
Burlina
A B
AB
Bertini
E
E
Saponara
I
I
Sabetta
G
G
Taroni
F
F
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*
D009097:Multienzyme Complexes; D010710:Phosphates; D063991:Mitochondrial Trifunctional Protein