2,4-Dienoyl-CoA reductase deficiency

Alternate names

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

Definition

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.

Epidemiology

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

Cause

• 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.

Inheritance

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

Diagnosis

• 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.

Treatment

management of this conition may include:

• Formula low in an amino acid called lysine
• Carnitine supplements

NIH genetic and rare disease info

• NIH info on 2,4-Dienoyl-CoA reductase deficiency

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