- Prenatal molecular evaluation of six fetuses in four unrelated Korean families with ornithine transcarbamylase deficiency
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Yoo HW, Kim GH
- KMID: 1064966
- J Korean Med Sci.
- 1998 Apr;13(2):179-185.
- doi: 10.3346/jkms.1998.13.2.179
Ornithine transcarbamylase (OTC) deficiency, an X-linked inborn error of the urea cycle, leads to the accumulation of ammonia, causing neurologic deficits. Clinical management for the patients with OTC deficiency... -
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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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- 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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- The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence
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Ko JM, Shin CH, Yang SW, Seong MW, Park SS, Song J
- KMID: 1714212
- J Korean Med Sci.
- 2012 Aug;27(8):961-964.
- doi: 10.3346/jkms.2012.27.8.961
Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical... -
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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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