Beta-ketothiolase deficiency is a rare autosomal recessive disorder that disrupts both ketone body utilisation and isoleucine catabolism. Caused by mutations in genes such as ACAT1, which encodes ...
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare condition characterized by mitochondrial fatty acid b-oxidation. It follows the autosomal recessive pattern of inheritance. When energy ...
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