Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation

被引：21

作者：

Tyni, T

Rapola, J

Palotie, A

Pihko, H

机构：

[1] UNIV HELSINKI, CHILDRENS HOSP, PATHOL UNIT, FIN-00290 HELSINKI, FINLAND

[2] HELSINKI UNIV HOSP, DEPT LAB, HELSINKI, FINLAND

来源：

JOURNAL OF PEDIATRICS | 1997年 / 131卷 / 05期

关键词：

D O I：

10.1016/S0022-3476(97)70111-2

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Mitochondrial trifunctional protein (MTP), an enzyme complex participating in fatty acid beta-oxidation, is the potential site of two documented defects: long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) and MTP deficiencies. LCHAD deficiency usually manifests as hypoglycemia, with hepatopathy, hypotonia, cardiomyopathy, and retinopathy. Hypoparathyroidism has been detected in a patient with MTP deficiency. We now report on a patient with LCHAD deficiency and hypoparathyroidism, evidenced by hypocalcemia, hyperphosphatemia, and a low level of parathyroid hormone, in whom the parathyroid glands could not be located after death.

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页码：766 / 768

页数：3

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