congenitale lactaatacidose Saguenay-Lac-Saint-Jean-type (aandoening)
congenitale lactaatacidose Saguenay-Lac-Saint-Jean-type
syndroom van Leigh Frans-Canadees type
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type
Leigh syndrome French-Canadian type
Cytochrome C oxidase deficiency French-Canadian type
A mitochondrial disease, a French Canadian form of Leigh syndrome, with characteristics of chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. It was first described in Saguenay-Lac-Saint-Jean (Quebec, Canada) in this region the prevalence of the gene mutation underlying the disorder is estimated to be 1/23 inhabitants and may be due to a founder effect. There are 3 forms of the disease corresponding to varying degrees of severity: a neonatal form, a classic form and a so-called survivor form. Survivor form describes those who have survived several episodes, cross a critical threshold and show less severe symptoms. Caused by two types of mutations in the LRPPRC gene (2p21). The disease follows a monogenic autosomal recessive pattern of inheritance.
Associated morphologydegeneratieve afwijking
Finding sitestructuur van encephalon
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde degeneratieve ziekten van zenuwstelsel
SNOMED CT to Orphanet simple map70472
SNOMED CT to ICD-10 extended map
AdviceALWAYS G31.8
CorrelationSNOMED CT source code to target map code correlation not specified