A neonate with hyperornithinemia-hyperammonemiahomocitrullinuria syndrome from a consanguineous Pakistani family

• 발행기관: 대한의학유전학회
• 저자명: Yoo-Mi Kim Han Hyuk Lim Mi Hyeon Gang Yong Wook Lee Sook Za Kim Gu-Hwan Kim Han-Wook Yoo Jung-Min Ko Meayoung Chang
• 간행물 정보: 『대한의학유전학회지』제16권 제2호, 85~89쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2019.12.30

영문 초록

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.

목차

Introduction

Case

Discussion

Acknowledgements

References

키워드

Urea cycle disorders inborn Neonatal screening HHH syndrome Ornithine