Table 1.

Common autosomal recessive disorders specific to the Saguenay

Disorder	Carrier frequency in SLSJ	Carrier frequency elsewhere	Frequency of most common mutations in SLSJ
Spastic ataxia	1/21	Unknown form
Tyrosinemia I	1/22	1/165 Norway, Sweden	96%
Sensorimotor polyneuropathy	1/23	Unknown form	100% (from haplotypes)
Pseudovitamin D deficient rickets	1/26	Very rare	100%
Cytochrome C oxydase deficiency	1/31	Very rare
Cystinosis	1/39	1/200
Histidinemia histidase deficiency	1/32	1/50 to 1/150
Lipoprotein lipase deficiency	1/43	Very rare	100%
Pyruvate kinase deficiency	1/64	Rare	90%

Source: Conseil génétique–Complexe Hospitalier de la Sagamie (Chicoutimi Hospital).