Visit Metagene.de!
Summary
LEIGH SYNDROME, FRENCH CANADIAN TYPE LSFC
COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE
220111
OMIM = Online Medalian Inheritance of Men
70472
2p21
rare
autosomal reessive
most cases are caused by a founder missense mutation in LRPPRC
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 retardation
respiratory distress
seizures
small mid-face (malar or maxillary hypoplasia)
speech development, delayed, abnormal
strabismus
tremor or twitching
wide nasal bridge
laboratory finding
L-Lactic acid increasedplasma, cerebrospina
Literature
Sabourdy F,et al.A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variantBMC Med Genet100842009
de Sain-van der Velden MG,et al.Differences between acylcarnitine profiles in plasma and bloodspotsMol Genet Metab1101116-1212013
Broomfield A,et al.A Clinically Severe Variant of +-ª-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of HydrocephalusJIMD Rep11093-972013
Xia B,et al.Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseasesClin Chem5991357-13682013
Huynh T,Khan JM, Ranganathan SA comparative structural bioinformatics analysis of inherited mutations in +-ª-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.BMC Genomics Suppl123S222011