Inborn Error of Metabolism - Incidence

Incidence

In a study in British Columbia, the overall incidence of the inborn errors of metabolism were estimated to be 70 per 100,000 live births or 1 in 1,400 births, overall representing more than approximately 15% of single gene disorders in the population.

Type of inborn error Incidence
Disease involving amino acids (e.g. PKU), organic acids,
primary lactic acidosis, galactosemia, or a urea cycle disease
24 per 100 000 births 1 in 4,200
Lysosomal storage disease 8 per 100 000 births 1 in 12,500
Peroxisomal disorder ~3 to 4 per 100 000 of births ~1 in 30,000
Respiratory chain-based mitochondrial disease ~3 per 100 000 births 1 in 33,000
Glycogen storage disease 2.3 per 100 000 births 1 in 43,000

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