Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene

被引：2

作者：

Sharma, Suvasini ^{[1
,2
]}

Torres Jimenez, Rosa ^{[5
]}

Aneja, Satinder ^{[1
,2
]}

Garcia, Marta G. ^{[5
]}

Sethi, Gulshan R. ^{[3
,4
]}

机构：

[1] Lady Hardinge Med Coll & Hosp, Dept Pediat, New Delhi, India

[2] Associated Kalawati Saran Childrens Hosp, New Delhi, India

[3] Maulana Azad Med Coll, Dept Pediat, New Delhi, India

[4] Associated Lok Nayak Hosp, New Delhi, India

[5] La Paz Univ Hosp, Dept Clin Biochem, IdiPaz, Madrid, Spain

来源：

INDIAN JOURNAL OF PEDIATRICS | 2012年 / 79卷 / 11期

关键词：

Self-mutilation; Hyperuricemia; Purine metabolism; SPANISH FAMILIES; DEFICIENCY; SPECTRUM;

D O I：

10.1007/s12098-011-0657-9

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The authors report two brothers who presented with motor delay and stiffness. The elder boy had auto-mutilation of lips and fingers. Serum uric acid was elevated in both the children. Both the boys had undetectable hypoxanthine-guanine phosphoribosyl transferase activity in hemolysate, confirming the diagnosis of Lesch-Nyhan syndrome. Molecular genetic testing revealed a new mutation in the HPRT1 gene.

引用

页码：1520 / 1522

页数：3

共 50 条

[21] Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome
Saito, Y
Takashima, S
BRAIN & DEVELOPMENT, 2000, 22 : S122 - S131
[22] A Trivalent Enzymatic System for Uricolytic Therapy of HPRT Deficiency and Lesch-Nyhan Disease
Luca Ronda
Marialaura Marchetti
Riccardo Piano
Anastasia Liuzzi
Romina Corsini
Riccardo Percudani
Stefano Bettati
Pharmaceutical Research, 2017, 34 : 1477 - 1490
[23] A Trivalent Enzymatic System for Uricolytic Therapy of HPRT Deficiency and Lesch-Nyhan Disease
Ronda, Luca
Marchetti, Marialaura
Piano, Riccardo
Liuzzi, Anastasia
Corsini, Romina
Percudani, Riccardo
Bettati, Stefano
PHARMACEUTICAL RESEARCH, 2017, 34 (07) : 1477 - 1490
[24] Lesch-Nyhan Variant Syndrome Variable Presentation in 3 Affected Family Members
Sarafoglou, Kyriakie
Grosse-Redlinger, Krista
Boys, Christopher J.
Charnas, Laurence
Otten, Noelle
Broock, Robyn
Nyhan, William L.
ARCHIVES OF NEUROLOGY, 2010, 67 (06) : 761 - 764
[25] Molecular Characterization and Structure Analysis of Hprt in a Chinese Patient with Lesch-Nyhan Disease
Jian, Wei-Xia
Peng, Wen-Hui
Li, Hai-Ling
Feng, Qi-Wen
Wang, Wei-Xing
Su, Qing
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2013, 32 (04) : 189 - 195
[26] Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child
Rebai, Ibtihel
Kraoua, Ichraf
Benrhouma, Hanene
Rouissi, Aida
Turki, Ilhem
Ceballos-Picot, Irene
Gouider-Khouja, Neziha
BRAIN & DEVELOPMENT, 2014, 36 (10) : 921 - 923
[27] Novel mutation in HPRT1 causing a splicing error with multiple variations
Baba, Shimpei
Saito, Takashi
Yamada, Yasukazu
Takeshita, Eri
Nomura, Noriko
Yamada, Kenichiro
Wakamatsu, Nobuaki
Sasaki, Masayuki
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2017, 36 (01) : 1 - 6
[28] Dopamine receptor upregulation in Lesch-Nyhan syndrome: A postmortem study
Saito, Y
Ito, M
Hanaoka, S
Ohama, E
Akaboshi, S
Takashima, S
NEUROPEDIATRICS, 1999, 30 (02) : 66 - 71
[29] Cerebral Venous Sinus Thrombosis in a Child with Lesch-Nyhan Syndrome
Manokaran, Ranjith K.
Jauhari, Prashant
Chakrabarty, Biswaroop
Gupta, Neerja
Kumar, Atin
Gulati, Sheffali
NEUROLOGY INDIA, 2021, 69 (04) : 1021 - 1023
[30] Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Questions
Natasha Ng
Amrit Kaur
Mohan Shenoy
Pediatric Nephrology, 2019, 34 : 423 - 424

← 1 2 3 4 5 →