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Article

[AMPD genes and urate metabolism].

Nihon rinsho. Japanese journal of clinical medicine - 1 Apr 2008

Morisaki Hiroko, Morisaki Takayuki

Abstract excerpt

AMPD (AMP deaminase), an enzyme catalyzing AMP to IMP, plays an important role in purine/urate metabolism. AMPD is encoded in 3 genes for 3 isozymes M, L and E (H), respectively. In humans, 2 AMPD deficiencies have been reported in skeletal muscles (AMPD1 deficiency) and red blood cells (AMPD3 deficiency). AMPD1 deficiency has been found in patients with metabolic myopathy. AMPD regulates important purine...

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Source

Identifiers

PMID: 18409530

Genes

AMPD1
AMPD3

Provenance

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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[Myogenic hyperuricemia].Semantic proximity Read ↗

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Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiencySemantic proximity Read ↗

IMPDH dysregulation in disease: a mini review.Semantic proximity Read ↗

[Inherited AMP-deaminase deficiency--molecular basis of the defect].Semantic proximity Read ↗

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