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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01076 |
Beta-ketothiolase deficiency Alpha-methylacetoacetic aciduria |
Beta-ketothiolase deficiency/Alpha-methylacetoacetic aciduria is an autosomal recessive error of isoleucine and ketone body catabolism caused by a deficiency of mitochondrial acetoacetyl-CoA thiolase. ... | Inherited metabolic disorder | ACAT1 [HSA:38] [KO:K00626] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |