Neonatal diabetes mellitus with hypergalactosemia

被引：11

作者：

Kentrup, H ^{[1
]}

Altmüller, J ^{[1
]}

Pfäffle, R ^{[1
]}

Heimann, G ^{[1
]}

机构：

[1] Rhein Westfal TH Aachen, Univ Hosp, Dept Pediat, Aachen, Germany

来源：

EUROPEAN JOURNAL OF ENDOCRINOLOGY | 1999年 / 141卷 / 04期

关键词：

D O I：

10.1530/eje.0.1410379

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report the case of a male, small-for-gestational-age newborn who presented with failure to thrive, severe fluctuation of blood glucose concentrations, and increased serum concentrations of galactose. The infant responded well to a lactose-free diet supplemented with fructose, inulin and corn starch. The metabolic disorder disappeared within 6 months. The transient course, and results of a molecular analysis of the glucose transporter 2 (Glut2) gene seem to rule out Fanconi-Bickel syndrome.

引用

页码：379 / 381

页数：3

共 17 条

[1]

Armentrout D, 1995, J Pediatr Health Care, V9, P75, DOI 10.1016/S0891-5245(05)80005-7

[2] FAST AND SENSITIVE SILVER STAINING OF DNA IN POLYACRYLAMIDE GELS [J].

BASSAM, BJ ;

CAETANOANOLLES, G ;

GRESSHOFF, PM .

ANALYTICAL BIOCHEMISTRY, 1991, 196 (01) :80-83

[3] MOLECULAR-BIOLOGY OF MAMMALIAN GLUCOSE TRANSPORTERS [J].

BELL, GI ;

KAYANO, T ;

BUSE, JB ;

BURANT, CF ;

TAKEDA, J ;

LIN, D ;

FUKUMOTO, H ;

SEINO, S .

DIABETES CARE, 1990, 13 (03) :198-208

[4] INFANCY-ONSET DIABETES-MELLITUS AND MULTIPLE EPIPHYSEAL DYSPLASIA [J].

DETTMAN, C ;

RALLISON, ML .

JOURNAL OF PEDIATRICS, 1972, 80 (02) :292-+

[5]

FOSEL S, 1995, EUR J PEDIATR, V154, P944

[6] FANCONI-BICKEL SYNDROME [J].

MANZ, F ;

BICKEL, H ;

BRODEHL, J ;

FEIST, D ;

GELLISSEN, K ;

GESCHOLLBAUER, B ;

GILLI, G ;

HARMS, E ;

HELWIG, H ;

NUTZENADEL, W ;

WALDHERR, R .

PEDIATRIC NEPHROLOGY, 1987, 1 (03) :509-518

[7] FACILITATIVE GLUCOSE TRANSPORTERS [J].

MUECKLER, M .

EUROPEAN JOURNAL OF BIOCHEMISTRY, 1994, 219 (03) :713-725

[8]

MUECKLER M, 1994, J BIOL CHEM, V269, P17765

[9] DETECTION OF POLYMORPHISMS OF HUMAN DNA BY GEL-ELECTROPHORESIS AS SINGLE-STRAND CONFORMATION POLYMORPHISMS [J].

ORITA, M ;

IWAHANA, H ;

KANAZAWA, H ;

HAYASHI, K ;

SEKIYA, T .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (08) :2766-2770

[10]

Rosenthal A, 1992, DNA Seq, V3, P61, DOI 10.3109/10425179209039697

← 1 2 →