- Isovaleric Acidemia in Siblings Diagnosed by Organic Acid Analysis
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Cheon KS, Lee DH
- KMID: 2207542
- J Korean Pediatr Soc.
- 2000 Jun;43(6):828-831.
Isovaleric acidemia is an inborn error in metabolism due to a defect in isovaleryl-CoA dehydrogenase. Accumulation of serum isovaleric acid causes poor feeding, vomiting, lethargy, hypothermia, convulsion, mental retardation, etc. It is... -
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- Chronic intermittent form of isovaleric aciduria in a 2-year-old boy
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Cho JM, Lee BH, Kim GH, Kim YM, Choi JH, Yoo HW
- KMID: 2284808
- Korean J Pediatr.
- 2013 Aug;56(8):351-354.
- doi: 10.3345/kjp.2013.56.8.351
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... -
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- A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation
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Sag E, Cebi AH, Kaya G, Karaguzel , Cakir M
- KMID: 2375280
- Pediatr Gastroenterol Hepatol Nutr.
- 2017 Mar;20(1):61-64.
- doi: 10.5223/pghn.2017.20.1.61
Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital... -
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- Inherited metabolic diseases in the urine organic acid analysis of complex febrile seizure patients
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Cheong HJ, Kim HR, Lee SS, Bae EJ, Park WI, Lee HJ, Choi HC
- KMID: 2281676
- Korean J Pediatr.
- 2009 Feb;52(2):199-204.
- doi: 10.3345/kjp.2009.52.2.199
PURPOSE: Seizure associated with fever may indicate the presence of underlying inherited metabolic diseases. The present study was performed to investigate the presence of underlying metabolic diseases in patients with... -
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- Continuous Renal Replacement Therapy in a 4-year-old Child with Rhabdomyolysis Following Parainfluenza Virus Infection and Hyperammonemia due to Isovaleric Acidemia
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Park SJ, Cho SY, Pai KS, Shin JI
- KMID: 2098922
- J Korean Soc Pediatr Nephrol.
- 2013 Oct;17(2):132-136.
Parainfluenza virus infection is one of the causes of fatal rhabdomyolysis. Rhabdomyolysis can be aggravated by mitochondrial fatty acid beta-oxidation disorders during prolonged periods of fasting. Moreover, in patients with... -
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