Possible clinical and histologic manifestations of adult-onset type II citrullinenia in early infancy

被引：82

作者：

Tomomasa, T ^{[1
]}

Kobayashi, K

Kaneko, H

Shimura, H

Fukusato, T

Tabata, M

Inoue, Y

Ohwada, S

Kasahara, M

Morishita, Y

Kimura, M

Saheki, T

Morikawa, A

机构：

[1] Gunma Univ, Sch Med, Dept Pediat, Maebashi, Gumma 371, Japan

[2] Gunma Univ, Sch Med, Dept Surg 2, Maebashi, Gumma 371, Japan

[3] Gunma Univ, Sch Med, Div Diagnost Pathol, Maebashi, Gumma 371, Japan

[4] Kagoshima Univ, Fac Med, Dept Biochem, Kagoshima 890, Japan

来源：

JOURNAL OF PEDIATRICS | 2001年 / 138卷 / 05期

关键词：

D O I：

10.1067/mpd.2001.113361

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis.

引用

页码：741 / 743

页数：3

共 8 条

[1] Brusilow S. W., 1995, METABOLIC MOL BASES, V1, P1187
[2] KASAHARA M, 2000, IN PRESS TRANSPLANTA, V70
[3] KOBAYASHI K, 1986, AM J HUM GENET, V38, P667
[4] Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia
Kobayashi, K
Horiuchi, M
Saheki, T
[J]. HEPATOLOGY, 1997, 25 (05) : 1160 - 1165
[5] KOBAYASHI K, 1993, AM J HUM GENET, V53, P1024
[6] The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
Kobayashi, K
Sinasac, DS
Iijima, M
Boright, AP
Begum, L
Lee, JR
Yasuda, T
Ikeda, S
Hirano, R
Terazono, H
Crackower, MA
Kondo, I
Tsui, LC
Scherer, SW
Saheki, T
[J]. NATURE GENETICS, 1999, 22 (02) : 159 - 163
[7] KOBAYASHI K, 2000, CALCIUM MOL BASIS CA, P557
[8] HEREDITARY DISORDERS OF THE UREA CYCLE IN MAN - BIOCHEMICAL AND MOLECULAR APPROACHES
SAHEKI, T
KOBAYASHI, K
INOUE, I
[J]. REVIEWS OF PHYSIOLOGY BIOCHEMISTRY AND PHARMACOLOGY, 1987, 108 : 21 - 68

← 1 →