Hypoparathyroidism in mitochondrial trifunctional protein deficiency - 12/10/17
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. (J PEDIATR 1996;129:160-2)
Le texte complet de cet article est disponible en PDF.Abbreviations : CK, FAO, iPTH
Plan
 | From the Department of Metabolism, Bambino Gesù Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy, the Division of Biochemistry and Genetics, Istituto Nationale Neurologico C. Besta, Milan, Italy, and the Department of Pediatrics, University of Padua, Padua, Italy |
| Supported in part by Theleton-Italia (grant No. 553) (Dr. Taroni). |
 | Reprint requests: Carlo Dionisi-Vici, MD, Department of Metabolism, Bambino Gesù Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Piazza S. Onofrio 4, I-00165 Rome, Italy. |
| 0022-3476/96/$5.00 + 0 9/22/73472 |
© 1996
Mosby, Inc. Tous droits réservés.
Vol 129 - N° 1
P. 159-162 - juillet 1996 Retour au numéro
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