García Puig J, Mateos F A, Jiménez M L, Arcas J, Miranda M E, Oríz Vázquez J
Servicio de Medicina Interna, Hospital La Paz, Universidad Autónoma, Madrid.
Med Clin (Barc). 1994 May 14;102(18):681-7.
The hypoxanthine-guanine phosphoribosyltransferase deficiency (HGPRT) may have two clinical forms: that of the Lesch-Nyhan syndrome (complete HGPRT deficiency) and that of the Kelley-Seegmiller syndrome (partial HGPRT deficiency). The clinical and biochemical features of the HGPRT deficiency are not completely known.
A series of 12 patients, 8 with the Lesch-Nyhan syndrome and 4 with the Kelley-Seegmiller syndrome are described. The plasma and urine concentrations of hypoxanthine, xanthine and uric acid were compared with those obtained in 20 normal subjects and 41 patients with primary gout. The molecular defect which determines the deficient HGPRT activity was studied in one patient with the Kelley-Seegmiller syndrome.
The 8 patients with the Lesch-Nyhan syndrome presented choreoathetosis, corticospinal motor system dysfunction, mental retardation and signs of self mutilation. The neurologic manifestations of the patients with the Kelley-Seegmiller syndrome were very heterogeneous: two patients had psychomotor retardation with spastic movement, one was mentally retarded with generalized dystonia and one patient only had gout with no neurologic manifestations. The erythrocytic HGPRT activity ranged between 0.28 and < 0.01 nmol/h and mg of hemoglobin in all the patients. Plasma and urine purine concentrations were very high, being greater than those in normal subjects and patients with gout (p < 0.01). A mutation was identified in exon 3 (substitution of guanine with thymine) conditioning the substitution of the normal glycine amino acid by valine (HGPRT Madrid) on molecular study.
The hypoxanthine-guanine phosphoribosyltransferase deficiency has a heterogeneous clinical expression. The activity of this enzyme in erythrocytes and the results of the metabolism of the purines do not allow prediction of the severity of the clinical manifestations.
次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症（HGPRT）可能有两种临床形式：莱施 - 奈恩综合征（完全HGPRT缺乏）和凯利 - 西格米勒综合征（部分HGPRT缺乏）。HGPRT缺乏症的临床和生化特征尚未完全明确。
描述了一系列12例患者，其中8例为莱施 - 奈恩综合征，4例为凯利 - 西格米勒综合征。将次黄嘌呤、黄嘌呤和尿酸的血浆及尿液浓度与20名正常受试者和41例原发性痛风患者的相应浓度进行比较。对1例凯利 - 西格米勒综合征患者研究了决定HGPRT活性缺乏的分子缺陷。
8例莱施 - 奈恩综合征患者出现舞蹈手足徐动症、皮质脊髓运动系统功能障碍、智力发育迟缓及自残迹象。凯利 - 西格米勒综合征患者的神经学表现非常多样：2例患者有精神运动发育迟缓伴痉挛性运动，1例智力发育迟缓伴全身性肌张力障碍，1例患者仅有痛风而无神经学表现。所有患者红细胞HGPRT活性在0.28至<0.01 nmol/h和mg血红蛋白之间。血浆和尿液嘌呤浓度非常高，高于正常受试者和痛风患者（p <0.01）。分子研究中在第3外显子中鉴定出一个突变（鸟嘌呤被胸腺嘧啶取代），导致正常甘氨酸被缬氨酸取代（HGPRT马德里）。
次黄嘌呤 -鸟嘌呤磷酸核糖转移酶缺乏症有多种临床表型。该酶在红细胞中的活性以及嘌呤代谢结果无法预测临床表现的严重程度。
