Biomaterial Database

[Uric acid stones in children. Identification and therapy of a newly detected defect of adenine-phosphoribosyltransferase (author's transl)]. 1979

H A Simmonds

APRT deficiency, a new cause of supposed "uric acid" stones in young children may be benign or life threatening. This stresses the importance of early recognition and diagnosis. The renal failure, severe in some instances, is preventable because 2,8-DHA formation, the precipitating factor in all, may be controlled by allopurinol preferably without alkali. A low purine diet is advised. "Uric acid" stones in children should always be subjected to sophisticated analysis, and regarded with suspicion in young adults. Diagnosis from red cell APRT activity will be impossible in transfused subjects.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D010430	Pentosyltransferases	Enzymes of the transferase class that catalyze the transfer of a pentose group from one compound to another.
D011687	Purines	A series of heterocyclic compounds that are variously substituted in nature and are known also as purine bases. They include ADENINE and GUANINE, constituents of nucleic acids, as well as many alkaloids such as CAFFEINE and THEOPHYLLINE. Uric acid is the metabolic end product of purine metabolism.
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D004035	Diet Therapy	Adjusting the quantity and quality of food intake to improve health status of an individual. This term does not include the methods of food intake (NUTRITIONAL SUPPORT).	Diet Therapy, Restrictive,Dietary Modification,Dietary Restriction,Restriction Diet Therapies,Restriction Diet Therapy,Restrictive Diet Therapies,Restrictive Diet Therapy,Diet Modification,Therapy, Diet,Diet Modifications,Diet Therapies,Diet Therapies, Restriction,Diet Therapy, Restriction,Dietary Modifications,Dietary Restrictions,Modification, Diet,Modification, Dietary,Restriction, Dietary,Therapy, Restriction Diet,Therapy, Restrictive Diet
D005260	Female		Females
D006720	Homozygote	An individual in which both alleles at a given locus are identical.	Homozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000228	Adenine Phosphoribosyltransferase	An enzyme catalyzing the formation of AMP from adenine and phosphoribosylpyrophosphate. It can act as a salvage enzyme for recycling of adenine into nucleic acids. EC 2.4.2.7.	AMP Pyrophosphorylase,Transphosphoribosidase,APRTase,Phosphoribosyltransferase, Adenine,Pyrophosphorylase, AMP
D000493	Allopurinol	A XANTHINE OXIDASE inhibitor that decreases URIC ACID production. It also acts as an antimetabolite on some simpler organisms.	Allohexal,Allohexan,Alloprin,Allopurin,Allorin,Allpargin,Allural,Apulonga,Apurin,Atisuril,Bleminol,Caplenal,Capurate,Cellidrin,Embarin,Foligan,Hamarin,Jenapurinol,Lopurin,Lysuron,Milurit,Milurite,Novopurol,Pan Quimica,Progout,Pureduct,Purinol,Remid,Rimapurinol,Roucol,Suspendol,Tipuric,Uribenz,Uridocid,Uripurinol,Urosin,Urtias,Xanthomax,Xanturic,Zygout,Zyloprim,Zyloric