Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Chronic intermittent form of isovaleric aciduria in a 2-year-old boy

  • Cho, Jin Min (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Yoo-Mi (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Choi, Jin-Ho (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • 투고 : 2012.08.24
  • 심사 : 2012.09.26
  • 발행 : 2013.08.15
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초록

Isovaleric aciduria (IVA) is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD). IVA presents either in the neonatal period as an acute episode of fulminant metabolic acidosis, which may lead to coma or death, or later as a "chronic intermittent form" that is associated with developmental delays, with or without recurrent acidotic episodes during periods of stress, such as infections. Here, we report the case of a 2-year old boy with IVA who presented with the chronic intermittent form. He was admitted to Asan Medical Center Children's Hospital with recurrent vomiting. Metabolic acidosis, hyperammonemia, elevated serum lactate and isovalerylcarnitine levels, and markedly increased urine isovalerylglycine concentration were noted. Sequence analysis of the IVD gene in the patient revealed the novel compound mutations-a missense mutation, c.986T>C (p.Met329Thr) and a frameshift mutation, c.1083del (p.Ile361fs$^*11$). Following stabilization during the acute phase, the patient has remained in a stable condition on a low-leucine diet.

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참고문헌

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피인용 문헌

  1. Atypical MR lenticular signal change in infantile isovaleric acidemia vol.26, pp.1, 2013, https://doi.org/10.4103/0971-3026.178362
  2. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia vol.62, pp.3, 2017, https://doi.org/10.1038/jhg.2016.144
  3. Aspects of Newborn Screening in Isovaleric Acidemia vol.4, pp.1, 2013, https://doi.org/10.3390/ijns4010007
  4. Microbiota and Malodor—Etiology and Management vol.21, pp.8, 2013, https://doi.org/10.3390/ijms21082886