描述
beta-Ketothiolase Deficiency (2-Methyl-3-Hydroxybutyric Acidemia; Mitochondrial Acetoacetyl-CoA Thiolase Deficiency; MAT Deficiency; T2 Deficiency; 3-KTD Deficiency; 3-Ketothiolase Deficiency) is an autosomal recessive disease caused by a mutation in the HADHB gene which codes for beta-ketathiolase. A deficiency in this enzyme results in accumulation of ammonia and ketone bodies in blood; and 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, 3-hydroxybutyric acid, tiglylglycine, and ketone bodies in urine. Symptoms include ketosis, seizures, organic acids in urine, and hyperammonemia. Treatment includes a low protein diet and L-carnitine.h3. h2.