Lesch-Nyhan Syndrome
An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
推出的年份: 1973(1971)
树号: C10.228.140.163.100.425, C10.597.606.360.455.625, C16.320.322.500.625, C16.320.400.525.625, C16.320.565.189.425, C16.320.565.798.594, C18.452.132.100.425, C18.452.648.189.425, C18.452.648.798.594
MeSH 单一 ID: D007926
进入的组:
Lesch Nyhan Syndrome
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
X-Linked Hyperuricemia
Hyperuricemia, X-Linked
Hyperuricemias, X-Linked
X Linked Hyperuricemia
X-Linked Hyperuricemias
X-Linked Primary Hyperuricemia
Hyperuricemia, X-Linked Primary
Hyperuricemias, X-Linked Primary
Primary Hyperuricemia, X-Linked
Primary Hyperuricemias, X-Linked
X Linked Primary Hyperuricemia
X-Linked Primary Hyperuricemias
HGPRT Deficiency
Deficiencies, HGPRT
Deficiency, HGPRT
HGPRT Deficiencies
Total HPRT Deficiency
Deficiencies, Total HPRT
Deficiency, Total HPRT
HPRT Deficiencies, Total
HPRT Deficiency, Total
Total HPRT Deficiencies
Complete HPRT Deficiency
Complete HPRT Deficiencies
Deficiencies, Complete HPRT
Deficiency, Complete HPRT
HPRT Deficiencies, Complete
HPRT Deficiency, Complete
Deficiency of Guanine Phosphoribosyltransferase
Guanine Phosphoribosyltransferase Deficiencies
Guanine Phosphoribosyltransferase Deficiency
Phosphoribosyltransferase Deficiencies, Guanine
Phosphoribosyltransferase Deficiency, Guanine
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
Hypoxanthine Phosphoribosyltransferase Deficiency
Deficiencies, Hypoxanthine Phosphoribosyltransferase
Deficiency, Hypoxanthine Phosphoribosyltransferase
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome
Juvenile Hyperuricemia Syndrome
Hyperuricemia Syndrome, Juvenile
Hyperuricemia Syndromes, Juvenile
Juvenile Hyperuricemia Syndromes
Syndrome, Juvenile Hyperuricemia
Syndromes, Juvenile Hyperuricemia
Deficiency of Hypoxanthine Phosphoribosyltransferase
Hypoxanthine Phosphoribosyltransferase Deficiencies
Phosphoribosyltransferase Deficiencies, Hypoxanthine
Phosphoribosyltransferase Deficiency, Hypoxanthine
Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
Choreoathetosis Self Mutilation Hyperuricemia Syndrome
Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease
Hypoxanthine Phosphoribosyl Transferase Deficiency Disease
Complete HGPRT Deficiency Disease
Deficiency Disease, Complete HGPRT
Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase
Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase
Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase
Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases
HGPRT Deficiency Disease, Complete
Lesch-Nyhan Disease
Lesch Nyhan Disease
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
Choreoathetosis Self-Mutilation Syndrome
Choreoathetosis Self Mutilation Syndrome
Choreoathetosis Self-Mutilation Syndromes
Self-Mutilation Syndrome, Choreoathetosis
Self-Mutilation Syndromes, Choreoathetosis
Syndrome, Choreoathetosis Self-Mutilation
Syndromes, Choreoathetosis Self-Mutilation
Primary Hyperuricemia Syndrome
Hyperuricemia Syndrome, Primary
Hyperuricemia Syndromes, Primary
Primary Hyperuricemia Syndromes
Syndrome, Primary Hyperuricemia
Syndromes, Primary Hyperuricemia
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency
早前的内容:
Athetosis (1966-1970)
Mental Retardation (1966-1970)
Purine-Pyrimidine Metabolism, Inborn Errors (1966-1970)
Self Mutilation (1966-1970)
留言 (0)