W8MD Diet | COVID-19 portal | Vitamin D | Vaccine | Keto

WikiMD is the world's largest medical encyclopedia with
14,025 pages, 4,158,119 edits & 43,076,769 views.

Free unbiased diet, health and wellness info!

2,4-Dienoyl-CoA reductase deficiency

From WikiMD's free health, diet & wellness encyclopedia
Jump to navigation Jump to search

Alternate names

Dienoyl-CoA reductase deficiency; 2,4-alpha dienoyl-CoA reductase deficiency


2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This is an inherited (genetic) condition that prevents your baby’s body from breaking down certain fats and turning them into energy. If your baby does not make enough energy from fat, substances build up in the blood and can cause serious health problems.


There have only been two reported cases of DE-RED.


  • This condition may be associated with the DECR1 gene.
  • This gene gives the body instructions for making an enzyme that breaks down a certain type of fat, called “unsaturated fatty acids.”

Gene mutations

  • When a change in the NADK2 gene causes it to not work, the body cannot properly break down fat to make energy.
  • This leads to the signs and symptoms of the condition.


Autosomal recessive inheritance, a 25% chance

This condition has autosomal recessive pattern of inheritance.

Signs and symptoms

There have only been two reported cases of DE-RED. In both cases, signs of the condition were present from birth.

Signs of the condition in the two known cases have included the following:

  • Poor feeding
  • Small head size (microcephaly)
  • Weak muscle tone (hypotonia)
  • Vomiting
  • Gets upset easily
  • Delays in weight gain
  • Breathing problems


  • Newborn screening for DE-RED is done using a small amount of blood collected from your baby’s heel.
  • During screening, a special machine measures how much of certain substances (called acylcarnitines) are in your baby’s blood.
  • The body produces these substances when it makes energy from fats.
  • Babies with high levels of these substances might have DE-RED.


management of this conition may include:

NIH genetic and rare disease info

2,4-Dienoyl-CoA reductase deficiency is a rare disease.

Latest research - 2,4-Dienoyl-CoA reductase deficiency

Clinical trials


2,4-Dienoyl-CoA reductase deficiency is part of WikiMD's free ^articles!

^2,4-Dienoyl-CoA reductase deficiency (article) is provided for informational purposes only. No expressed or implied warranties as to the validity of content.
WikiMD is not a substitute for professional advice. By accessing and using WikiMD you agree to the terms of use.
Templates etc. when imported from Wikipedia, are licensed under CC BY-SA 3.0. See full disclaimers.
W8MD weight loss logo

Ad. Tired of being overweight?. W8MD's physician weight loss program can HELP. Tele medicine available