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doi: 10.1038/nrendo.2014.171, 13

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Arg469Trp Also stop & trunctation No biallelic truncating mutations Allelic disorders Episodic hepatic Infant multisystem (MC1DN20) ACAD9 protein Catalyzes initial rate-limiting step in -oxidation of fatty acyl-CoA Belongs to group of ACADs that act on fatty acids containing 14 to 20 carbons Homodimer Oxidative phosphorylation complex I biogenesis Core mitochondrial CI assembly complex with: ECSIT, NDUFAF1 Clinical Onset age: 90% survive past 10 years Laboratory Muscle: Complex I activity reduced (6% to 40%) Serum lactate: High Serum acylcarnitine profile: Normal Brain MRI: Cerebellar atrophy ACAD9 Variant: Episodic hepatic disorder Onset age: 1st 2 decades Precipitated by minor illnesses Hepatic dysfunction Cardiomyopathy: Some patients Brain MRI: Edema ACAD9 Variant: Infant onset disorder Genetics Inheritance: Recessive Clinical Hypotonia Encephalopathy Cardiomyopathy: Hypertrophic Lactic acidosis Treatment: