A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family |
Kim, Yoo-Mi
(Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University)
Lim, Han Hyuk (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) Gang, Mi Hyeon (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) Lee, Yong Wook (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) Kim, Sook Za (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Yoo, Han-Wook (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Ko, Jung-Min (Department of Pediatrics, Seoul National University Children's Hospital, College of Medicine, Seoul National University) Chang, Meayoung (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) |
1 | Zanatta A, Rodrigues MD, Amaral AU, Souza DG, Quincozes-Santos A, Wajner M. Ornithine and homocitrulline impair mitochondrial function, decrease antioxidant defenses and induce cell death in menadione-stressed rat cortical astrocytes: potential mechanisms of neurological dysfunction in HHH syndrome. Neurochem Res 2016;41:2190-8. DOI |
2 | Zanatta A, Viegas CM, Tonin AM, Busanello EN, Grings M, Moura AP, et al. Disturbance of redox homeostasis by ornithine and homocitrulline in rat cerebellum: a possible mechanism of cerebellar dysfunction in HHH syndrome. Life Sci 2013;93:161-8. DOI |
3 | Haberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 2012;7:32. DOI |
4 | Shih VE, Efron ML, Moser HW. Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. Am J Dis Child 1969;117:83-92. DOI |
5 | Olivieri G, Pro S, Diodato D, Di Capua M, Longo D, Martinelli D, et al. Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia. Orphanet J Rare Dis 2019;14:208. DOI |
6 | Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, et al.; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD); Members of the Urea Cycle Disorders Consortium (UCDC). The incidence of urea cycle disorders. Mol Genet Metab 2013;110:179-80. DOI |
7 | Panza E, Martinelli D, Magini P, Dionisi Vici C, Seri M. Hereditary spastic paraplegia is a common phenotypic finding in ARG1 deficiency, P5CS deficiency and HHH syndrome: three inborn errors of metabolism caused by alteration of an interconnected pathway of glutamate and urea cycle metabolism. Front Neurol 2019;10:131. DOI |
8 | Martinelli D, Diodato D, Ponzi E, Monne M, Boenzi S, Bertini E, et al. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Orphanet J Rare Dis 2015;10:29. DOI |
9 | Sokoro AA, Lepage J, Antonishyn N, McDonald R, Rockman-Greenberg C, Irvine J, et al. Diagnosis and high incidence of hyperornithinemia- hyperammonemia-homocitrullinemia (HHH) syndrome in Northern Saskatchewan. J Inherit Metab Dis 2010;33 Suppl 3:S275-81. DOI |
10 | Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. J Neurol Sci 2008;264:187-94. DOI |
11 | Boenzi S, Pastore A, Martinelli D, Goffredo BM, Boiani A, Rizzo C, et al. Creatine metabolism in urea cycle defects. J Inherit Metab Dis 2012;35:647-53. DOI |
12 | Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, et al. Creatine biosynthesis and transport in health and disease. Biochimie 2015;119:146-65. DOI |