<unk> s result when both parents of the diagnosed subject are carriers of a defective gene. This is known as an autosomal recessive disorder. Two parts of a recessive gene are required to activate the disease. If only one part of the gene is present then the individual is only a carrier and shows no symptoms of the disease. If both mutated genes are present, the individual will be symptomatic. Like most autosomal recessive disorders, when both parents are carriers, there is a 25% chance for each child to inherit the disease.
Fatty-acid metabolism disorder
Congenital disorders of amino acid metabolism
Glycogen storage disease
Inborn error of lipid metabolism
Inborn errors of carbohydrate metabolism
Lipid storage disorder
Mitochondrial toxicity
Inborn errors of metabolism