Format

Send to:

Choose Destination

Ornithine aminotransferase deficiency(GACR)

MedGen UID:
6695
Concept ID:
C0018425
Disease or Syndrome
Synonyms: GACR; Girate atrophy of the retina; Gyrate atrophy of choroid and retina; Hyperornithinemia with gyrate atrophy of choroid and retina; OAT deficiency; OKT deficiency; Ornithine ketoacid aminotransferase deficiency
SNOMED CT: Gyrate atrophy (314467007); Gyrate atrophy of choroid and retina (314467007)
 
Gene (location): OAT (10q26.13)
 
Monarch Initiative: MONDO:0009796
OMIM®: 258870
Orphanet: ORPHA414

Definition

Gyrate atrophy of the choroid and retina due to deficiency of ornithine aminotransferase is clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence (summary by Peltola et al., 2002). See 238970 for another hyperornithinemia syndrome. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOrnithine aminotransferase deficiency

Recent clinical studies

Etiology

Dong C, Song Z, Meng X, Sun C, Wang K, Yang Y, Qin H, Han C, Zhang F, Zheng W, Gao W
Pediatr Surg Int 2020 Dec;36(12):1443-1450. Epub 2020 Oct 10 doi: 10.1007/s00383-020-04756-3. PMID: 33040172
Vatanavicharn N, Ratanarak P, Liammongkolkul S, Sathienkijkanchai A, Wasant P
Clin Chim Acta 2012 Jul 11;413(13-14):1141-4. Epub 2012 Mar 23 doi: 10.1016/j.cca.2012.03.014. PMID: 22465081
Mehta MC, Katsumi O, Shih VE, Hirose T
Acta Ophthalmol (Copenh) 1991 Dec;69(6):810-4. doi: 10.1111/j.1755-3768.1991.tb02067.x. PMID: 1789102

Diagnosis

Ozcaliskan S, Balci S, Artunay O
J Coll Physicians Surg Pak 2021 Nov;31(11):1354-1356. doi: 10.29271/jcpsp.2021.11.1354. PMID: 34689497
Klinke G, Richter S, Monostori P, Schmidt-Mader B, García-Cazorla A, Artuch R, Christ S, Opladen T, Hoffmann GF, Blau N, Okun JG
J Inherit Metab Dis 2020 Jul;43(4):712-725. Epub 2020 Jan 23 doi: 10.1002/jimd.12213. PMID: 31930732
Santos L, Fiona WJ, Walter JH
J Inherit Metab Dis 2006 Feb;29(1):240. doi: 10.1007/s10545-006-0286-z. PMID: 16601905
Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT
J Inherit Metab Dis 2005;28(5):673-9. doi: 10.1007/s10545-005-0074-1. PMID: 16151897
Ohkubo Y, Ueta A, Ito T, Sumi S, Yamada M, Ozawa K, Togari H
Tohoku J Exp Med 2005 Apr;205(4):335-42. doi: 10.1620/tjem.205.335. PMID: 15750329

Therapy

Santos L, Fiona WJ, Walter JH
J Inherit Metab Dis 2006 Feb;29(1):240. doi: 10.1007/s10545-006-0286-z. PMID: 16601905

Prognosis

Dong C, Song Z, Meng X, Sun C, Wang K, Yang Y, Qin H, Han C, Zhang F, Zheng W, Gao W
Pediatr Surg Int 2020 Dec;36(12):1443-1450. Epub 2020 Oct 10 doi: 10.1007/s00383-020-04756-3. PMID: 33040172
Mehta MC, Katsumi O, Shih VE, Hirose T
Acta Ophthalmol (Copenh) 1991 Dec;69(6):810-4. doi: 10.1111/j.1755-3768.1991.tb02067.x. PMID: 1789102

Clinical prediction guides

Ohkubo Y, Ueta A, Ito T, Sumi S, Yamada M, Ozawa K, Togari H
Tohoku J Exp Med 2005 Apr;205(4):335-42. doi: 10.1620/tjem.205.335. PMID: 15750329
Ramesh V, Gusella JF, Shih VE
Mol Biol Med 1991 Feb;8(1):81-93. PMID: 1682785
Vannas-Sulonen K, Vannas A, O'Donnell JJ, Sipilä I, Wood I
Acta Ophthalmol (Copenh) 1983 Feb;61(1):9-19. doi: 10.1111/j.1755-3768.1983.tb01389.x. PMID: 6858648

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center