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KMID : 0918520120120020104
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Journal of the Korean Society of Inherited Metabolic Disease
2012 Volume.12 No. 2 p.104 ~ p.107
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A Neonate with Alpha-methylacetoacetic Aciduria Identified by Newborn Screening
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Leel Beom-Hee
Kim Yoo-Mi
Kim Jae-Min
Kim Gu-Hwan
Yoo Han-Wook
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Abstract
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Alpha-methylacetoacetic aciduria is a rare inborn metabolic disorder, caused by acetyl-CoA acetyltransferase-1 deficiency. This enzyme acts on the last step of isoleucine metabolism. It dissociates 2-Methyl-3-Hydroxybutyryl-CoA into propionyl-CoA and acetyl-CoA. ACAT1 is the causative gene. Most patients manifest recurrent ketotic metabolic acidosis, but some patients can be identified in their presymptomatic period by newborn screening. Urinary organic acid profile is characterized by increased amounts of 2-Methyl-3-Hydroxybutyric acid, tiglylglycine, and 2-methyl acetoacetic acid. In this report, a Korean patient with alpha-methylacetoacetic aciduria is described. This is the first Korean case report confirmed by genetic testing.
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KEYWORD
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Alpha-methylacetoacetic aciduria, ACAT1, Newborn screening, Isoleucine metabolism
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