Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Partial HPRT deficiency (Kelley-Seegmiller syndrome).

The Journal of the Association of Physicians of India - 1 Jan 2006

Saigal Renu, Chakraborty A, Yadav R N, Prashant R K

Abstract excerpt

Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We report a case of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Binding Sites
Share to Erythrocytes
Share to Hyperuricemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypoxanthine Phosphoribosyltransferase

Share to Lymphocytes

Share to Metabolism, Inborn Errors

Share to Purines

Share to Syndrome

Source

Identifiers

PMID: 16649740

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Partial HPRT deficiency (Kelley-Seegmiller syndrome).PMID 16649740Read ↗

[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].Semantic proximity Read ↗

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.Semantic proximity Read ↗

Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene.Semantic proximity Read ↗

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.Semantic proximity Read ↗

Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.Semantic proximity Read ↗

Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille).Semantic proximity Read ↗

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.Semantic proximity Read ↗

Unusual presentation of Kelley-Seegmiller syndrome.Semantic proximity Read ↗

[Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report].Semantic proximity Read ↗

Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.Semantic proximity Read ↗

The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.Semantic proximity Read ↗

Lesch-Nyhan Syndrome: Models, Theories, and TherapiesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.