Glutaric aciduria type 2 (GA-II)

Alternative name	Multiple acyl-CoA dehydrogenase deficiency (MADD)
About the condition	GA-II is predominantly a fatty acid oxidation disorder. It is a hereditary disease that is caused by a missing enzyme complex needed to convert fat and some amino acids into energy.
Inheritance	Autosomal recessive
Year screening started in WA	2005
Incidence in Australia	Currently unknown
Enzyme defect	Deficiency of electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETF-DH).
Symptoms if untreated	Hypoglycaemia Hyperammonaemia Cardiomyopathy Polycystic kidneys Hepatomegaly ‘Sweaty feet’ odour Coma and death possible
Metabolites on bloodspot screening	Multiple increased acylcarnitines (C4, C5, C5DC, C6, C8, C0, C12, C14, C14:1, C16, C18, and C18:1).
Diagnostic tests	Plasma acylcarnitine profile Urine organic acids Plasma amino acids ETF and ETFDH gene analysis
Treatment	Regulation of dietary fat intake Carnitine supplementation Riboflavin supplementation Avoidance of fasting Intervention if hypoglycaemia and/or acidosis
Screening issues	Later-onset and milder variants occur.