2,4-Dienoyl-CoA Reductase deficiency, Dienoyl-CoA reductase deficiency, DE RED, DECR.
Incidence
One patient reported. Enzyme needed for beta-oxidation of unsaturated fatty acids. Prevalence: <1 / 1 000 000. (Update 2017/ MGJ)
Clinical Characteristics
2,4-dienoyl-CoA reductase deficiency (DECRD) is caused by homozygous mutation in the NADK2 gene on chromosome 5p13. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance. Is a rare inborn error of metabolism resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic dysfunction beginning in early infancy. In neonatal period, with dysmorphic features (short trunk, arms, fingers and feet with a large face), irritability, microcephaly by age 2 months, cardiac hypertrophy, severe hypotonia, FTT, feeding problems, vomiting. Pt died at 4 months. Biochemical studies had shown hyperlysinemia, hypocarnitinemia with increased % of esterified fraction, a normal organic acid profile with 2-trans-4-cis-decadienoylcarnitine, and an unusual acylcarnitine species in both urine and blood. Large ventricles on CT scan.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-L, EB-M
A diagnosis is possible through genetic testing of a blood or saliva sample. This test looks for a mutation in the NADK2 gene. The mutation was found by exome sequencing and segregated with the disorder in the family.