Hypoparathyroidism in mitochondrial trifunctional protein deficiency

被引：38

作者：

DionisiVici, C

Garavaglia, B

Burlina, AB

Bertini, E

Saponara, I

Sabetta, G

Taroni, F

机构：

[1] IST NATL NEUROL C BESTA, DIV BIOCHEM & GENET, MILAN, ITALY

[2] UNIV PADUA, DEPT PEDIAT, PADUA, ITALY

来源：

JOURNAL OF PEDIATRICS | 1996年 / 129卷 / 01期

关键词：

D O I：

10.1016/S0022-3476(96)70206-8

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

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页码：159 / 162

页数：4

相关论文

共 12 条

[1] PERIPHERAL SENSORY-MOTOR POLYNEUROPATHY, PIGMENTARY RETINOPATHY, AND FATAL CARDIOMYOPATHY IN LONG-CHAIN 3-HYDROXY-ACYL-COA DEHYDROGENASE-DEFICIENCY [J].

BERTINI, E ;

DIONISIVICI, C ;

GARAVAGLIA, B ;

BURLINA, AB ;

SABATELLI, M ;

RIMOLDI, M ;

BARTULI, A ;

SABETTA, G ;

DIDONATO, S .

EUROPEAN JOURNAL OF PEDIATRICS, 1992, 151 (02) :121-126

[2] ENDOCRINE DYSFUNCTION IN KEARNS-SAYRE SYNDROME [J].

HARVEY, JN ;

BARNETT, D .

CLINICAL ENDOCRINOLOGY, 1992, 37 (01) :97-104

[3] MOLECULAR-BASIS OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - IDENTIFICATION OF THE MAJOR DISEASE-CAUSING MUTATION IN THE ALPHA-SUBUNIT OF THE MITOCHONDRIAL TRIFUNCTIONAL PROTEIN [J].

IJLST, L ;

WANDERS, RJA ;

USHIKUBO, S ;

KAMIJO, T ;

HASHIMOTO, T .

BIOCHIMICA ET BIOPHYSICA ACTA-LIPIDS AND LIPID METABOLISM, 1994, 1215 (03) :347-350

[4] COMBINED ENZYME DEFECT OF MITOCHONDRIAL FATTY-ACID OXIDATION [J].

JACKSON, S ;

KLER, RS ;

BARTLETT, K ;

BRIGGS, H ;

BINDOFF, LA ;

POURFARZAM, M ;

GARDNERMEDWIN, D ;

TURNBULL, DM .

JOURNAL OF CLINICAL INVESTIGATION, 1992, 90 (04) :1219-1225

[5] MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY - CATALYTIC HETEROGENEITY OF THE MUTANT ENZYME IN 2 PATIENTS [J].

KAMIJO, T ;

WANDERS, RJA ;

SAUDUBRAY, JM ;

AOYAMA, T ;

KOMIYAMA, A ;

HASHIMOTO, T .

JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (04) :1740-1747

[6] HYPOCALCEMIC MYOPATHY IN IDIOPATHIC HYPOPARATHYROIDISM [J].

KRUSE, K ;

SCHEUNEMANN, W ;

BAIER, W ;

SCHAUB, J .

EUROPEAN JOURNAL OF PEDIATRICS, 1982, 138 (03) :280-282

[7]

Parfitt AM, 1980, Clinical disorders of fluid and electrolyte metabolism, P947

[8]

Resnick D, 1988, DIAGNOSIS BONE JOINT, P3102

[9] IDENTIFICATION OF A COMMON MUTATION IN THE CARNITINE PALMITOYLTRANSFERASE II GENE IN FAMILIAL RECURRENT MYOGLOBINURIA PATIENTS [J].

TARONI, F ;

VERDERIO, E ;

DWORZAK, F ;

WILLEMS, PJ ;

CAVADINI, P ;

DIDONATO, S .

NATURE GENETICS, 1993, 4 (03) :314-319

[10] PROGRESSIVE NEUROPATHY AND RECURRENT MYOGLOBINURIA IN A CHILD WITH LONG-CHAIN 3-HYDROXYACYL COENZYME-A DEHYDROGENASE-DEFICIENCY [J].

VICI, CD ;

BURLINA, AB ;

BERTINI, E ;

BACHMANN, C ;

MAZZIOTTA, MRM ;

ZACCHELLO, F ;

SABETTA, G ;

HALE, DE .

JOURNAL OF PEDIATRICS, 1991, 118 (05) :744-746