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논문 기본 정보

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학술저널
저자정보
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 M)
저널정보
대한의학유전학회 Journal of genetic medicine Journal of genetic medicine 제16권 제2호
발행연도
2019.1
수록면
85 - 89 (5page)

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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.
#Urea cycle disorders #inborn #Neonatal screening #HHH syndrome #Ornithine

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참고문헌 (12)

참고문헌 신청
Häberle J / 2012 / Suggested guidelines for the diagnosis and management of urea cycle disorders / Orphanet J Rare Dis 7:32 google schola Shih VE / 1969 / Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation / Am J Dis Child 117:83~92 google schola Olivieri G / 2019 / Corticospinal tract damage in HHH syndrome : a metabolic cause of hereditary spastic paraplegia / Orphanet J Rare Dis 14:208 google schola Panza E / 2019 / 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 10:131 google schola Martinelli D / 2015 / The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome / Orphanet J Rare Dis 10:29 google schola

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