同: hypoxanthine-guanine phosphoribosyltransferase

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〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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1. 小児における運動過多な運動障害 hyperkinetic movement disorders in children
2. 遺伝性痙性対麻痺 hereditary spastic paraplegia
3. 常染色体優性尿細管間質性腎臓病（髄質嚢胞性腎疾患） autosomal dominant tubulointerstitial kidney disease medullary cystic kidney disease
4. 遺伝学およびゲノミクスのためのツール：研究用に育種された遺伝子改変マウス tools for genetics and genomics specially bred and genetically engineered mice
5. 舞踏病の概要 overview of chorea

English Journal

Neurotransmitter and their metabolite concentrations in different areas of the HPRT knockout mouse brain.

Tschirner SK1, Gutzki F2, Schneider EH3, Seifert R4, Kaever V5.
Journal of the neurological sciences.J Neurol Sci.2016 Jun 15;365:169-74. doi: 10.1016/j.jns.2016.04.025. Epub 2016 Apr 16.
Lesch-Nyhan syndrome (LNS) is characterized by uric acid overproduction and severe neurobehavioral symptoms, such as recurrent self-mutilative behavior. To learn more about the pathophysiology of the disease, we quantified neurotransmitters and their metabolites in the cerebral hemisphere, cerebellu
PMID 27206901

Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.

Vargiami E1, Printza N1, Papadimiditriou E1, Batzios S1, Kyriazi M1, Papachristou F1, Zafeiriou DI2.
Urology.Urology.2016 Apr 11. pii: S0090-4295(16)30065-6. doi: 10.1016/j.urology.2016.04.004. [Epub ahead of print]
Lesch-Nyhan syndrome is an X-linked recessive inborn error of purine metabolism, due to deficiency of the enzyme HPRT (hypoxanthine-guanine phosphoribosyl transferase) and underlying HPRT gene mutations (over 300 mutations identified up to date). It is characterized by a wide range of neurological s
PMID 27079129

[Self injury in adolescence].

Harth W1.
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete.Hautarzt.2016 Apr;67(4):298-303. doi: 10.1007/s00105-015-3758-y.
Self-injury often occurs for the first time in adolescence. The current classification distinguishes several groups: (1) factitious disorder imposed on self and factitious disorder imposed on another, (2) nonsuicidal self-injury (NSSI) and (3) obsessive-compulsive (OCD) and related disorders. The di
PMID 26817930

Japanese Journal

<b>分子遺伝学的検査にて本邦初の変異と家族内発症が明らかになったLesch-Nyhan variantの一家系</b>

痛風と核酸代謝 39(2), 121-128, 2015
NAID 130005114182

Partial HPRT Deficiency with a Novel Mutation of the <i>HPRT</i> Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia

Internal Medicine 54(12), 1523-1526, 2015
NAID 130005075957

痙攣と精神運動遅滞を主訴としたhypoxanthine-guanine phosphoribosyltransferase部分欠損症の1例

臨床神経学 54(11), 892-896, 2014
NAID 130004706047

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ヒポキサンチングアニンホスホリボシルトランスフェラーゼ ...

概要・定義. プリンサルベージ酵素である、ヒポキサンチン-グアニンホスホリボシルトランスフェラーゼ（HPRT）が先天的にほぼ欠損することにより、プリン体の合成が上昇し、高尿酸血症をきたすほか、不随意運動、筋硬直、精神遅滞、特有の自咬症を ...

Hypoxanthine-guanine phosophoribosyltransferase (HPRT ...

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome Orphanet J Rare Dis. 2007 Dec 8;2:48. doi: 10.1186/1750-1172-2-48. Authors Rosa J Torres 1 , Juan G Puig 1 Division of Clinical ...

Partial HPRT deficiency (Kelley-Seegmiller syndrome) - PubMed

Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome ...