OBSERVATIONS ON COEXISTENCE OF METHYLMALONIC ACIDEMIA AND GLYCINEMIA

被引：91

作者：

MORROW, G

BARNESS, LA

AUERBACH, VH

DIGEORGE, AM

ANDO, T

NYHAN, WL

机构：

[1] Department of Pediatrics, Hospital of the University of Pennsylvania, Philadelphia, PA

[2] University of Pennsylvania School of Medicine, Philadelphia, PA

[3] Department of Pediatrics, Temple University School of Medicine, Philadelphia, PA

[4] Department of Biochemistry, Temple University School of Medicine, Philadelphia, PA

[5] St. Christopher's Hospital for Children, Miami, FL

[6] Department of Pediatrics, University of MiamiSchool of Medicine, Miami, FL

来源：

JOURNAL OF PEDIATRICS | 1969年 / 74卷 / 05期

关键词：

D O I：

10.1016/S0022-3476(69)80130-7

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Methylmalonic acidemia and ketotic glycinemia are clinically indistinguishable. Both disorders if untreated are characterized by vomiting, lethargy, failure to thrive, hepatomegaly, ketoacidosis, osteoporosis, neutropenia, and thrombocytopenia. Biochemically, however, they are distinct entities. Glycinemia patients do not excrete methylmalonate, whereas in methylmalonic acidemia massive urinary methylamalonate is an essential finding. Some patients with methylmalonic acidemia are responsive to massive doses of vitamin B12. © 1969 The C. V. Mosby Company.

引用

页码：680 / &

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