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Summary
2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
2,4-DIENOYL-CoA REDUCTASE DECRD
616034
OMIM = Online Medalian Inheritance of Men
431361
5p13.2
  • L-carnitine
rare
autosomal recessive
mutation in the NADK2 gene
symptoms
blindness, visual loss, visual impairment
dysmorphism
dystonia
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
hypotonia
microcephaly (<2 SD for age)
nystagmus
onset, neonatal
respiratory acidosis
seizures
vomiting
laboratory finding
L-Lysine 92.00325.00increasedplasma
Carnitine 11.6173.87decreasedserum
Decadienoylcarnitine (C10:2) increasedserum
Decadienoylcarnitine (C10:2)0.000.00 increasedurineno data
L-Lactic acid0.000.00 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