A NEW NEONATAL CASE OF N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY TREATED BY CARBAMYLGLUTAMATE

被引：50

作者：

GUFFON, N

VIANEYSABAN, C

BOURGEOIS, J

RABIER, D

COLOMBO, JP

GUIBAUD, P

机构：

[1] HOP NECKER ENFANTS MALAD,BIOCHIM LAB,PARIS 15,FRANCE

[2] UNIV BERN,DEPT CLIN CHEM,BERN,SWITZERLAND

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1995年 / 18卷 / 01期

关键词：

D O I：

10.1007/BF00711374

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

N-Acetylglutamate synthase (NAGS) deficiency is a rare, autosomal recessive urea-cycle disease. Its clinical presentation is not different from the other hereditary hyperammonaemias. We report a new neonatal case with hyperammonaemic coma. A test by carbamylglutamate was performed at 25 days of life. Since then, the child was treated by carbamylglutamate three or four times a day with a total dose of 80-100 mg/kg per day. Today, the boy is 1 year old. He receives carbamylglutamate 200 mg four times a day. He has normal somatic and neurological development and good metabolic balance.

引用

页码：61 / 65

页数：5

共 50 条

[31] Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency
Hwu, W.-L.
Chien, Y.-H.
Tang, N. L. S.
Law, L.-K.
Lin, C.-Y.
Lee, N.-C.
JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (05) : 816 - 816
[32] A breakthrough toward establishing a murine model for N-acetylglutamate synthase (NAGS) deficiency
Mirzozoda, Khulkar
Cabrera-Luque, Juan
Caldovic, Ljubica
Morizono, Hiroki
Tuchman, Mendel
MOLECULAR GENETICS AND METABOLISM, 2011, 102 (03) : 248 - 249
[33] N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra
Al Kaabi, Eiman H.
El-Hattab, Ayman W.
MOLECULAR GENETICS AND METABOLISM REPORTS, 2016, 8 : 94 - 98
[34] Characterization and evolutionary history of N-acetylglutamate synthase
Caldovic, L
Morizono, H
Shi, DS
Allewell, NM
Tuchman, M
BIOPHYSICAL JOURNAL, 2004, 86 (01) : 493A - 494A
[35] N-acetylglutamate synthase and regulation of ureagenesis.
Caldovic, L
Panglao, M
Lopez, G
Haskins, N
Morizono, H
Tuchman, M
MOLECULAR GENETICS AND METABOLISM, 2005, 84 (03) : 206 - 206
[36] NORMAL N-ACETYLGLUTAMATE CONCENTRATION MEASURED IN LIVER FROM A NEW PATIENT WITH N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY - PHYSIOLOGICAL AND BIOCHEMICAL IMPLICATIONS
VOCKLEY, J
VOCKLEY, CMW
LIN, SP
TUCHMAN, M
WU, TC
LIN, CY
SEASHORE, MR
BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY, 1992, 47 (01): : 38 - 46
[37] PARTIAL N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY - A NEW CASE WITH UNCONTROLLABLE MOVEMENT-DISORDERS
BURLINA, AB
BACHMANN, C
WERMUTH, B
BORDUGO, A
FERRARI, V
COLOMBO, JP
ZACCHELLO, F
JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (03) : 395 - 398
[38] HUMAN HEPATIC N-ACETYLGLUTAMATE CONTENT AND N-ACETYLGLUTAMATE SYNTHASE ACTIVITY - DETERMINATION BY STABLE ISOTOPE-DILUTION
TUCHMAN, M
HOLZKNECHT, RA
BIOCHEMICAL JOURNAL, 1990, 271 (02) : 325 - 329
[39] Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia
Ljubica Caldovic
Hiroki Morizono
Maria Gracia Panglao
Sabrina F. Cheng
Seymour Packman
Mendel Tuchman
Human Genetics, 2003, 112 : 364 - 368
[40] Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia
Caldovic, L
Morizono, H
Panglao, MG
Cheng, SF
Packman, S
Tuchman, M
HUMAN GENETICS, 2003, 112 (04) : 364 - 368

← 1 2 3 4 5 →