Adenylosuccinate lyase deficiency: an update. 1994

G Van den Berghe, and F Van den Bergh, and M F Vincent, and J Jaeken
Laboratory of Physiological Chemistry, University of Louvain Medical School, Brussels.

UI MeSH Term Description Entries
D007042 Hypoxanthines Purine bases related to hypoxanthine, an intermediate product of uric acid synthesis and a breakdown product of adenine catabolism.
D011685 Purine Nucleotides Purines attached to a RIBOSE and a phosphate that can polymerize to form DNA and RNA. Nucleotides, Purine
D011686 Purine-Pyrimidine Metabolism, Inborn Errors Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero. Purine Pyrimidine Metabolism, Inborn Errors
D012016 Reference Values The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality. Normal Range,Normal Values,Reference Ranges,Normal Ranges,Normal Value,Range, Normal,Range, Reference,Ranges, Normal,Ranges, Reference,Reference Range,Reference Value,Value, Normal,Value, Reference,Values, Normal,Values, Reference
D005347 Fibroblasts Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. Fibroblast
D005561 Formates Derivatives of formic acids. Included under this heading are a broad variety of acid forms, salts, esters, and amides that are formed with a single carbon carboxy group. Formic Acids,Acids, Formic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000264 Adenylosuccinate Lyase An enzyme that, in the course of purine ribonucleotide biosynthesis, catalyzes the conversion of 5'-phosphoribosyl-4-(N-succinocarboxamide)-5-aminoimidazole to 5'-phosphoribosyl-4-carboxamide-5-aminoimidazole and the conversion of adenylosuccinic acid to AMP. EC 4.3.2.2. Adenylosuccinase,Lyase, Adenylosuccinate
D012867 Skin The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D019271 Hypoxanthine A purine and a reaction intermediate in the metabolism of adenosine and in the formation of nucleic acids by the salvage pathway.

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