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Hyperornithinemia

MedGen UID:
109343
Concept ID:
C0599035
Disease or Syndrome
Synonym: Ornithinemia
SNOMED CT: Deficiency of ornithine-oxo-acid aminotransferase (276426004); Ornithine oxo-acid aminotransferase deficiency (276426004); Ornithine aminotransferase deficiency (276426004); Ornithine ketoacid transaminase deficiency (276426004); OKT deficiency (276426004); Ornithine-oxo-acid amino acid transferase deficiency (276426004); Ornithine-delta-aminotransferase deficiency (276426004); OAT - Ornithine oxo-acid aminotransferase deficiency (276426004); OAT deficiency (276426004); Hyperornithinemia (33985005)
 
HPO: HP:0012026
OMIM®: 258870

Definition

Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50.\n\nMost people with gyrate atrophy have no symptoms other than vision loss, but some have additional features of the disorder. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia), which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly to treatment and does not recur after the newborn period.\n\nGyrate atrophy usually does not affect intelligence; however, abnormalities may be observed in brain imaging or other neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy.\n\nGyrate atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). In some people with the disorder these abnormalities lead to numbness, tingling, or pain in the hands or feet, while in others they are detectable only by electrical testing of the nerve impulses.\n\nIn some people with gyrate atrophy, a particular type of muscle fibers (type II fibers) break down over time. While this muscle abnormality usually causes no symptoms, it may result in mild weakness. [from MedlinePlus Genetics]

Conditions with this feature

Ornithine aminotransferase deficiency
MedGen UID:
6695
Concept ID:
C0018425
Disease or Syndrome
Gyrate atrophy of the choroid and retina (GACR) 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.
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
MedGen UID:
82815
Concept ID:
C0268540
Disease or Syndrome
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway. Clinical manifestations and age of onset vary among individuals even in the same family. Neonatal onset (~8% of affected individuals). Manifestations of hyperammonemia usually begin 24-48 hours after feeding begins and can include lethargy, somnolence, refusal to feed, vomiting, tachypnea with respiratory alkalosis, and/or seizures. Infantile, childhood, and adult onset (~92%). Affected individuals may present with: Chronic neurocognitive deficits (including developmental delay, ataxia, spasticity, learning disabilities, cognitive deficits, and/or unexplained seizures); Acute encephalopathy secondary to hyperammonemic crisis precipitated by a variety of factors; and Chronic liver dysfunction (unexplained elevation of liver transaminases with or without mild coagulopathy, with or without mild hyperammonemia and protein intolerance). Neurologic findings and cognitive abilities can continue to deteriorate despite early metabolic control that prevents hyperammonemia.

Recent clinical studies

Etiology

Ranucci G, Rigoldi M, Cotugno G, Bernabei SM, Liguori A, Gasperini S, Goffredo BM, Martinelli D, Monti L, Francalanci P, Candusso M, Parini R, Dionisi-Vici C
J Inherit Metab Dis 2019 Nov;42(6):1118-1127. Epub 2019 Aug 25 doi: 10.1002/jimd.12144. PMID: 31260111
Silfverberg T, Sahlander F, Enlund M, Oscarson M, Hårdstedt M
J Med Case Rep 2018 Sep 23;12(1):274. doi: 10.1186/s13256-018-1794-9. PMID: 30243302Free PMC Article
Sokoro AA, Lepage J, Antonishyn N, McDonald R, Rockman-Greenberg C, Irvine J, Lehotay DC
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S275-81. Epub 2010 Jun 24 doi: 10.1007/s10545-010-9148-9. PMID: 20574716
Salvi S, Santorelli FM, Bertini E, Boldrini R, Meli C, Donati A, Burlina AB, Rizzo C, Di Capua M, Fariello G, Dionisi-Vici C
Neurology 2001 Sep 11;57(5):911-4. doi: 10.1212/wnl.57.5.911. PMID: 11552031
Nänto-Salonen K, Komu M, Lundbom N, Heinänen K, Alanen A, Sipilä I, Simell O
Neurology 1999 Jul 22;53(2):303-7. doi: 10.1212/wnl.53.2.303. PMID: 10430418

Diagnosis

Silvera-Ruiz SM, Gemperle C, Peano N, Olivero V, Becerra A, Häberle J, Gruppi A, Larovere LE, Motrich RD
Front Immunol 2022;13:861516. Epub 2022 May 27 doi: 10.3389/fimmu.2022.861516. PMID: 35711415Free PMC Article
Hoshino Y, Kodaira M, Matsuno A, Kaneko T, Fukuyama T, Takano K, Yazaki M, Sekijima Y
Intern Med 2022 Feb 15;61(4):553-557. Epub 2021 Aug 24 doi: 10.2169/internalmedicine.7843-21. PMID: 34433721Free PMC Article
Jalali H, Najafi M, Khoshaeen A, Mahdavi MR, Mahdavi M
Eur J Ophthalmol 2021 Sep;31(5):NP23-NP26. Epub 2020 May 17 doi: 10.1177/1120672120921734. PMID: 32418451
Silfverberg T, Sahlander F, Enlund M, Oscarson M, Hårdstedt M
J Med Case Rep 2018 Sep 23;12(1):274. doi: 10.1186/s13256-018-1794-9. PMID: 30243302Free PMC Article
Kumar K, Agarwal A, Agarwal A, Dhawan A, Chandani N, Raj P
Retin Cases Brief Rep 2015 Spring;9(2):134-7. doi: 10.1097/ICB.0000000000000116. PMID: 25411929

Therapy

Ono H, Tamada T, Shigematsu Y
Pediatr Int 2018 Aug;60(8):762-764. Epub 2018 Jul 30 doi: 10.1111/ped.13608. PMID: 30058227
Tanzer F, Firat M, Alagoz M, Erdogan H
BMJ Case Rep 2011 Mar 15;2011 doi: 10.1136/bcr.07.2010.3200. PMID: 22698901Free PMC Article
Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK
J Neurol Sci 2008 Jan 15;264(1-2):187-94. Epub 2007 Sep 7 doi: 10.1016/j.jns.2007.08.003. PMID: 17825324
Dionisi Vici C, Bachmann C, Gambarara M, Colombo JP, Sabetta G
Pediatr Res 1987 Sep;22(3):364-7. doi: 10.1203/00006450-198709000-00025. PMID: 3116497
Giordano C, De Santo NG, Pluvio M, Santinelli R, Stoppoloni G
Nephron 1978;22(1-3):97-106. doi: 10.1159/000181428. PMID: 745643

Prognosis

Silfverberg T, Sahlander F, Enlund M, Oscarson M, Hårdstedt M
J Med Case Rep 2018 Sep 23;12(1):274. doi: 10.1186/s13256-018-1794-9. PMID: 30243302Free PMC Article
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article
Sokoro AA, Lepage J, Antonishyn N, McDonald R, Rockman-Greenberg C, Irvine J, Lehotay DC
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S275-81. Epub 2010 Jun 24 doi: 10.1007/s10545-010-9148-9. PMID: 20574716
Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarría L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM
Hum Mutat 2009 May;30(5):741-8. doi: 10.1002/humu.20930. PMID: 19242930
Camacho JA, Mardach R, Rioseco-Camacho N, Ruiz-Pesini E, Derbeneva O, Andrade D, Zaldivar F, Qu Y, Cederbaum SD
Pediatr Res 2006 Oct;60(4):423-9. Epub 2006 Aug 28 doi: 10.1203/01.pdr.0000238301.25938.f5. PMID: 16940241

Clinical prediction guides

Silvera-Ruiz SM, Gemperle C, Peano N, Olivero V, Becerra A, Häberle J, Gruppi A, Larovere LE, Motrich RD
Front Immunol 2022;13:861516. Epub 2022 May 27 doi: 10.3389/fimmu.2022.861516. PMID: 35711415Free PMC Article
Jalali H, Najafi M, Khoshaeen A, Mahdavi MR, Mahdavi M
Eur J Ophthalmol 2021 Sep;31(5):NP23-NP26. Epub 2020 May 17 doi: 10.1177/1120672120921734. PMID: 32418451
Sokoro AA, Lepage J, Antonishyn N, McDonald R, Rockman-Greenberg C, Irvine J, Lehotay DC
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S275-81. Epub 2010 Jun 24 doi: 10.1007/s10545-010-9148-9. PMID: 20574716
Amaral AU, Leipnitz G, Fernandes CG, Seminotti B, Zanatta A, Viegas CM, Dutra-Filho CS, Wajner M
Int J Dev Neurosci 2009 Nov;27(7):635-41. Epub 2009 Aug 13 doi: 10.1016/j.ijdevneu.2009.08.004. PMID: 19683047
Camacho JA, Rioseco-Camacho N
Pediatr Res 2009 Jul;66(1):35-41. doi: 10.1203/PDR.0b013e3181a283c1. PMID: 19287344

Recent systematic reviews

Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article

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