LEIGH SYNDROME, FRENCH CANADIAN TYPE (LSFC)

Question 1

What is  LEIGH SYNDROME, FRENCH CANADIAN TYPE (LSFC)?

Accepted Answer

rare
autosomal reessive
most cases are caused by a founder missense mutation in LRPPRC

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Leigh-Syndrom vom französisch-kanadischem Typ; Laktatazidose, kongenitale, Typ Saguenay-Lac-St. Jean

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 220111

Question 4

Which enzymes are involved?

Accepted Answer

Leucine-rich PPR motif-containing protein, mitochondrial

Disease	LEIGH SYNDROME, FRENCH CANADIAN TYPE (LSFC)
Synonym	COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE
OMIM	220111 OMIM = Online Mendelian Inheritance of Men
Orphanet	70472
Protein (UniProt)	Leucine-rich PPR motif-containing protein, mitochondrial
Gene locus	2p21
ICD	G31.88
Summary	rare autosomal reessive most cases are caused by a founder missense mutation in LRPPRC
Laboratory findings	D-Glucose dec (plasma) L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (plasma)
Symptoms	ataxia coma developmental delay dysmorphism early death failure to thrive hirsutism hyperglycemia hypertelorism hypoglycemia hypotonia lactic acidosis onset, infancy onset, neonatal prominent forehead psychomotor regression psychomotor retardation respiratory distress seizures small mid-face (malar or maxillary hypoplasia) speech development, delayed, abnormal strabismus tremor or twitching wide nasal bridge