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Article

Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Biochimica et biophysica acta - 21 May 2002

Micheli Vanna, Gathof Birgit S, Rocchigiani Marina, Jacomelli Gabriella, Sestini Silvia, Peruzzi Luana, Notarantonio Laura, Cerboni Barbara, Hayek Giuseppe, Pompucci Giuseppe

Abstract excerpt

Nucleotide metabolism was studied in erythrocytes of a mentally retarded child and family members. Partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency was found in the propositus and an asymptomatic maternal uncle. Studies in crude lysates demonstrated decreased apparent V(max) and slightly decreased apparent K(m) for hypoxanthine in both HPRT-deficient subjects. Genomic DNA analysis revealed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12009423
DOI: 10.1016/s0925-4439(02)00053-4

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NAPRT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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