Beta-Ketothiolase
Pathogenesis (Amino Acid Disorder)
- Beta-ketothiolase deficiency, results from enzyme deficiency in the break down of isoleucine (an essential amino acid and a ketone (a break down product of fats), which leads to ketoacidotic attacks in settings of protein deficiency. Beta-ketothiolase is found in mitochondria.
Clinical
- Onset: 6 – 24 Months
- Neurological manifestations: Lethargy/Seizures
- Systemic manifestations: Ketoacidotic attacks (Nausea/Vomiting in setting of Protein Deficiency (eg, Fasting, Infection, etc…)
Genetics
- ACAT1 gene mutation.
- Autosomal recessive.
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov