Purine Metabolism Disorders
Disease (OMIM Number) | Defective Proteins or Enzymes | Comments |
|---|---|---|
Calcium pyrophosphate arthropathy (chondrocalcinosis-2; 118600*) | Increased nucleoside triphosphate pyrophosphohydrolase | Biochemical profile: Calcium pyrophosphate dihydrate crystals in joints Clinical features: Recurrent episodes of monoarticular or multiarticular arthritis Treatment: No clear treatment |
Lesch-Nyhan syndrome (300322*)
| Hypoxanthine-guanine phosphoribosyltransferase | Biochemical profile: Hyperuricemia, hyperuricosuria Clinical features: Orange sandy crystals in diapers, growth failure, uric acid nephropathy and arthropathy, motor delay, hypotonia, self-injurious behavior, spasticity, hyperreflexia, extrapyramidal signs with choreoathetosis, dysarthria, dysphagia, developmental disabilities, megaloblastic anemia In variant form, no self-injurious behavior Treatment: |
Increased activity of phosphoribosylpyrophosphate synthetase (311850*) | Phosphoribosylpyrophosphate synthetase | Biochemical profile: Hyperuricemia Clinical features: Megaloblastic bone marrow, ataxia, hypotonia, hypertonia, psychomotor delay, polyneuropathy, cardiomyopathy, heart failure, uric acid nephropathy and arthropathy, diabetes mellitus, intracerebral calcification Treatment: |
Phosphoribosylpyrophosphate synthetase I deficiency (311850*) | Phosphoribosylpyrophosphate synthetase | Biochemical profile: Increased urinary orotate, hypouricemia Clinical features: Developmental disabilities, seizures with hypsarrhythmia, megaloblastic bone marrow Treatment: Adrenocorticotropic hormone |
Hereditary xanthinuria | Biochemical profile: Xanthinuria, hypouricemia, hypouricosuria Clinical features: Xanthine stones, nephropathy, myopathy Treatment: High fluid intake; low-purine diet | |
Type I (278300*) | Xanthine dehydrogenase | |
Type II (603592*) | Xanthine dehydrogenase and aldehyde oxidase | |
Adenine phosphoribosyltransferase deficiency (102600*) | Adenine phosphoribosyltransferase | Biochemical profile: Urinary 2,8-dihydroxyadenine Clinical features: Urolithiasis, nephropathy, round yellow-brown urine crystals Treatment: High fluid intake, low-purine diet, avoidance of dietary alkalis, renal transplantation |
Type I | No enzyme activity | |
Type II | Residual enzyme activity | |
Adenosine deaminase | Biochemical profile: Elevated serum adenosine and 2′-deoxyadenosine Clinical features: Growth failure, skeletal changes, recurrent infections, severe combined immunodeficiency, B-cell lymphoma, hemolytic anemia, idiopathic thrombocytopenia, hepatosplenomegaly, mesangial sclerosis Treatment: Supportive care, enzyme replacement, bone marrow or stem cell transplantation, experimental gene therapy | |
Increased adenosine deaminase (102730*) | Adenosine deaminase | Biochemical profile: Mild hyperuricemia Clinical features: Hemolytic anemia with anisopoikilocytosis and stomatocytosis Treatment: Deoxycoformycin |
Purine nucleoside phosphorylase | Biochemical profile: Hypouricemia; hypouricosuria; high serum inosine and guanine; high urinary inosine, 2′-deoxyinosine, and 2′-deodyguanosine Clinical features: Growth failure, cellular immunodeficiency, recurrent infections, hepatosplenomegaly, cerebral vasculitis, spastic diplegia, tetraparesis, ataxia, tremors, hypotonia, hypertonia, developmental disabilities, autoimmune hemolytic anemia, idiopathic thrombocytopenia, lymphoma, lymphosarcoma Treatment: Supportive care, stem cell transplantation | |
Myoadenylate deaminase deficiency (adenosine monophosphate deaminase I; 102770*) | Myoadenylate deaminase | Biochemical profile: No specific change Clinical features: Neonatal weakness and hypotonia; exercise-induced weakness or cramping; after exercise, decreased purine release and low increase in serum ammonia (relative to lactate) Treatment: Ribose or xylitol |
Adenylate kinase deficiency (103000*) | Adenylate kinase | Biochemical profile: No specific change Clinical features: Hemolytic anemia Treatment: Supportive care |
Adenylosuccinase deficiency (103050*)
| Adenylosuccinate lyase | Biochemical profile: Elevated succinyladenosine and succinylaminoimidazole carboxamide ribotides in body fluids Clinical features: Autism, severe psychomotor delay, seizures, growth delay, muscle wasting Treatment: Supportive care, adenine, and ribose |
* For complete gene, molecular, and chromosomal location information, see the Online Mendelian Inheritance in Man (OMIM) database. | ||