Transcription of HMG-CoA - jsimd.net
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HMG-CoA - jsimd.net
HMG-CoA . mitochondrial HMG-CoA synthase deficiency . HMG-CoA .. ( ) . 1,2 1p12 HMG-CoA (HMGCS2) 3 . - .. 20 4-12 .. : .. 10 .. AST, ALT, LDH .. 5 .. trans-3-hydroxyhex-4-enoate, 3-hydroxy-5-ketohexanoate . 12. : .. 10.. 2 .. - .. HMG-CoA .. Ca IP, AST, ALT, LDH,BUN, Cre, CK, UA, . pH. CT MRI.. 1 . 10 glucose infusion rate GIR mg/kg/min .. U/kg/ .. 2 .. pH . BE ml half correct . 10 . pH pCO2 20 mmHg HCO3- 10 mEq/L .. 3 .. 4 .. 3 . 6 4 4 . 1 4 6 . 4 4 8-10 . 4 7 4 10 .. 10 1 1 1 .. 1 . MRI . MRI .. 1. Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y. Ketone body metabolism and its defects. Journal of inherited metabolic disease 2014;37:541-51. 2. Mitchell GA, Fukao T. Inborn errors of ketone body metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular basis of inherited disease McGraw-Hill, New York. NewYork: McGraw-Hill; 2001:2327-56. 3. Boukaftane Y, Mitchell GA.
疾患名：ミトコンドリアHMG-CoA合成酵素欠損症 mitochondrial HMG-CoA synthase deficiency 1． 疾患概要. 肝臓におけるケトン体産生が障害されるミトコンドリアHMG-CoA合成酵素欠損症では、飢餓、
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