TY - CHAP M1 - Book, Section TI - Mitochondrial Acetoacetyl-CoA Thiolase (ACAT) Deficiency A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is an inherited mitochondrial disease (inborn error of metabolism) affecting the isoleucine catabolism resulting in recurrent episodes of ketoacidosis. This medical condition belongs to a spectrum of disease called organic acidemias. Clinically, it is associated with severe ketosis, acidosis, hypoglycemia, causing severe vomiting, poor feeding, seizures, muscular hypotonia, lethargy leading progressively to coma as a result of toxic encephalopathy. The onset of the disease is at birth and if the diagnosis is made in the first 10 days of life, there is potential for good outcome. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164078957 ER -