KEGG DISEASE: 5-Oxoprolinase deficiency

DISEASE: 5-Oxoprolinase deficiency

Entry

H02313                      Disease

Name

5-Oxoprolinase deficiency

Description

5-Oxoprolinase deficiency is an extremely rare disorder of the gamma-glutamyl cycle, that represents the primary pathway for glutathione synthesis and degradation. Recently, the OPLAH mutation was reported in two siblings who suffered from 5-oxoprolinuria with a benign clinical course.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H02313  5-Oxoprolinase deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06026  Glutathione biosynthesis
   H02313  5-Oxoprolinase deficiency

Pathway

hsa00480

Glutathione metabolism

Network

nt06026 Glutathione biosynthesis

Gene

OPLAH [HSA:26873] [KO:K01469]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:21651516

Authors

Almaghlouth IA, Mohamed JY, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya FS

Title

5-Oxoprolinase deficiency: report of the first human OPLAH mutation.

Journal

Clin Genet 82:193-6 (2012)
DOI:10.1111/j.1399-0004.2011.01728.x

Reference

PMID:23430506

Authors

Calpena E, Casado M, Martinez-Rubio D, Nascimento A, Colomer J, Gargallo E, Garcia-Cazorla A, Palau F, Artuch R, Espinos C

Title

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

Journal

JIMD Rep 7:123-8 (2013)
DOI:10.1007/8904_2012_166

» Japanese version

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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (7)   

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