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Summary
CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION (CDG)
ATP6V0A2-CDG CUTIS LAXA, DEBRE TYPE
219200
OMIM = Online Medalian Inheritance of Men
357058
12q24.31
rare
autosomal recessive
symptoms
cutis laxa
dysmorphism
failure to thrive
feeding difficulties, poor feeding
growth retardation
hair, abnormal (thin, brittle)
hypotonia
joint hypermobilty, dislocations
lipodystrophia
microcephaly
myopia
psychomotor retardation
seizures
strabismus
laboratory finding
Transaminases increasedplasma
IEF of serum transferrin, type 2 pattern abnormalserum
MRI, brain, abnormalities -
Literature
Korman SHInborn errors of isoleucine degradation: a reviewMol Genet Metab894289-2992006
Fukao Tet al.A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase geneMol Genet Metab944417-4212008
Cubillo Serna Iet al.Mitochondrial acetoacetyl-CoA thiolase deficiency: neonatal onsetAn Pediatr (Barc)674381-3842007
Sakurai Set al.Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structureMol Genet Metab904370-3782007
Fukao Tet al.Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiencyMol Genet Metab924375-3782007