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Summary
2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
2,4-DIENOYL-CoA REDUCTASE DECR
616034
OMIM = Online Medalian Inheritance of Men
431361
5p13.2
  • L-carnitine
rare
autosomal recessive
symptoms
blindness, visual loss, visual impairment
dysmorphism
dystonia
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
hypotonia
microcephaly
nystagmus
onset, newborn
respiratory acidosis
seizures
vomiting
laboratory finding
Lysine 92.00325.00increasedplasma
Carnitine 11.6173.87decreasedserum
Decadienoylcarnitine (C10:2) increasedserum
Decadienoylcarnitine (C10:2)0.000.00 increasedurineno data
Lactate0.000.00 increasedblood
Literature
Mack DRet al.Clinical denouement and mutatio analysis of patients with cystic fibrosis undergoing liver transplantation for biliary cirrhosisJ Pediatr1276881-8871995
Spiekerkoetter Uet al.Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutationsHum Mutat206447-4512002
Balslev Tet al.Recurrent seizures in metachromatic leukodystrophyPediatr Neurol170150-1541997
Mudd SHet al.The natural history od homocystinuria due to cystathionine beta-synthase deficiency Am J Hum Genet3711-311985
Harmatz Pet al.Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)J Pediatr1445574-5802004
Wilcken Bet al.Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babiesJ Pediatr1276965-9701995
Levitt Katz LEet al.Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycemia caused by hyperinsulinismJ Pediatr1310193-1991997