ACAD9 deficiency in Adult
ACAD9 is expressed throughout the body but especially in the brain, heart, liver, and skeletal muscles; thus, these organs are the most affected by ACAD9 deficiency. The clinical manifestations vary in severity, with neonates and infants presenting with life-threatening symptoms, whereas older children and adults manifest with milder cases. Adults with previously undiagnosed ACAD9 deficiency may present with growth retardation, learning difficulties, exercise intolerance, and fatigability.
The prevalence and demographic risk factors of ACAD9 deficiency are currently unknown because of the rarity and relatively recent discovery of this disorder.
For more information, see OMIM.
E71.30 – Disorder of fatty-acid metabolism, unspecified
725046003 – Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9
- Other inborn errors of metabolism, particularly those with lactic acidosis (eg, pyruvate dehydrogenase deficiency and pyruvate carboxylase deficiency)
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
- Organic acidemias and defects of mitochondrial fatty acid beta-oxidation (eg, isovaleric acidemia and propionic acidemia)
- Germinal matrix hemorrhage