Global InformationOrnithine translocase deficiency information
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| Ornithine translocase deficiency | |
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| Other names | HHH syndrome, ORNT1 deficiency, ornithine carrier deficiency, triple H syndrome |
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| Ornithine | |
Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome,[1] is a rare autosomal recessive[2] urea cycle disorder affecting the enzyme ornithine translocase, which causes ammonia to accumulate in the blood, a condition called hyperammonemia.
Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
- ^ Online Mendelian Inheritance in Man (OMIM): 238970
- ^ Hommes FA, Roesel RA, Metoki K, Hartlage PL, Dyken PR (Feb 1986). "Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria)". Neuropediatrics. 17 (1): 48–52. doi:10.1055/s-2008-1052499. ISSN 0174-304X. PMID 3960284. S2CID 260238696.