Abstract
Hyperornithinaemia due to ornithine aminotransferase (OAT) deficiency results in gyrate atrophy of the choroid and retina (GA). Although the progression of the retinal degeneration is highly variable, most GA patients lose all functional vision in middle age (45-65 years). Treatment includes an argininerestricted diet and a trial of pharmacological doses (250-500 mg/day) of pyridoxine (vitamin B). Long-term compliance with an arginine-restricted diet, especially when started at a young age, can reduce ornithine accumulation and slow visual loss and chorioretinal degeneration. Creatine supplementation may be indicated to replenish tissue levels, but this question has not yet been adequately addressed. Rarely, OAT-deficient neonates present with hyperammonaemic encephalopathy due to impaired urea cycle function caused by substrate limitation, with associated hypoargininaemia and hypoornithinaemia.
| Original language | English (US) |
|---|---|
| Title of host publication | Inborn Metabolic Diseases: Diagnosis and Treatment |
| Publisher | Springer Berlin Heidelberg |
| Pages | 323-332 |
| Number of pages | 10 |
| ISBN (Print) | 9783642157202, 9783642157196 |
| DOIs | |
| State | Published - Jan 1 2012 |
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ASJC Scopus subject areas
- Medicine(all)
Cite this
Disorders of ornithine metabolism. / Baumgartner, Matthias R.; Valle, David.
Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, 2012. p. 323-332.Research output: Chapter in Book/Report/Conference proceeding › Chapter
}
TY - CHAP
T1 - Disorders of ornithine metabolism
AU - Baumgartner, Matthias R.
AU - Valle, David
PY - 2012/1/1
Y1 - 2012/1/1
N2 - Hyperornithinaemia due to ornithine aminotransferase (OAT) deficiency results in gyrate atrophy of the choroid and retina (GA). Although the progression of the retinal degeneration is highly variable, most GA patients lose all functional vision in middle age (45-65 years). Treatment includes an argininerestricted diet and a trial of pharmacological doses (250-500 mg/day) of pyridoxine (vitamin B). Long-term compliance with an arginine-restricted diet, especially when started at a young age, can reduce ornithine accumulation and slow visual loss and chorioretinal degeneration. Creatine supplementation may be indicated to replenish tissue levels, but this question has not yet been adequately addressed. Rarely, OAT-deficient neonates present with hyperammonaemic encephalopathy due to impaired urea cycle function caused by substrate limitation, with associated hypoargininaemia and hypoornithinaemia.
AB - Hyperornithinaemia due to ornithine aminotransferase (OAT) deficiency results in gyrate atrophy of the choroid and retina (GA). Although the progression of the retinal degeneration is highly variable, most GA patients lose all functional vision in middle age (45-65 years). Treatment includes an argininerestricted diet and a trial of pharmacological doses (250-500 mg/day) of pyridoxine (vitamin B). Long-term compliance with an arginine-restricted diet, especially when started at a young age, can reduce ornithine accumulation and slow visual loss and chorioretinal degeneration. Creatine supplementation may be indicated to replenish tissue levels, but this question has not yet been adequately addressed. Rarely, OAT-deficient neonates present with hyperammonaemic encephalopathy due to impaired urea cycle function caused by substrate limitation, with associated hypoargininaemia and hypoornithinaemia.
UR - http://www.scopus.com/inward/record.url?scp=84956683985&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84956683985&partnerID=8YFLogxK
U2 - 10.1007/978-3-642-15720-2_22
DO - 10.1007/978-3-642-15720-2_22
M3 - Chapter
AN - SCOPUS:84956683985
SN - 9783642157202
SN - 9783642157196
SP - 323
EP - 332
BT - Inborn Metabolic Diseases: Diagnosis and Treatment
PB - Springer Berlin Heidelberg
ER -