Visit Metagene.de!
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 (<1:1000000)
autosomal recessive
mutation in the NADK2 gene
symptoms
blindness, visual loss, visual impairment
cerebral atrophy
developmental delay
dysmorphism
dystonia
early death
encephalopathy
eye movements, abnormal
failure to thrive
feeding difficulties, poor feeding
hypotonia
lactic acidosis
leukodystrophy
microcephaly (<2 SD for age)
nystagmus
onset, infancy
onset, neonatal
respiratory acidosis
seizures
vomiting
laboratory finding
Pipecolic acid normal-increasedplasma
Lactic acid mmol/lcerebrospinal fluid
L-Lysine 92.00325.00increasedplasma
L-Carnitine 11.6173.87decreasedserum
Decadienoylcarnitine (C10:2) increasedserum
Decadienoylcarnitine (C10:2)0.000.00 increasedurineno data
Lactic acid0.000.00 mmol/lblood
L-Lysine increasedurine
L-Lysine increasedcerebrospinal fluid
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
Prasad C,et al.Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancerClin Dysmorphol262117-1202017
Levitt Katz LEet al.Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycemia caused by hyperinsulinismJ Pediatr1310193-1991997
Polo G,et al.High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C diseaseClin Chem Lab Med5471221-12292016
Boemer F,et al.Diagnostic pitfall in antenatal manifestations of CPT II deficiencyClin Genet892193-1972016