Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

---

Description

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a rare inherited metabolic disorder that affects the body‘s ability to break down certain fats. This condition can lead to serious health problems, particularly in infants and young children, if it is not diagnosed and treated promptly. This blog post provides a comprehensive overview of MCADD, covering its causes, symptoms, diagnosis, management, and ways to thrive with this condition.

Genes Involved

Genes Involved:

MCADD is caused by mutations in the ACADM gene, located on chromosome 1. This gene provides instructions for making the enzyme medium-chain acyl-CoA dehydrogenase (MCAD), which plays a crucial role in breaking down fatty acids.

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms:

• Early Signs:

  • Lethargy, weakness, and poor feeding
  • Vomiting
  • Hypoglycemia (low blood sugar)
  • Seizures
  • Liver dysfunction
  • Coma

• Later Signs:

  • Frequent infections
  • Developmental delays
  • Muscle weakness and fatigue
  • Cardiomyopathy (heart muscle disease)

Causes

Causes:

MCADD is an autosomal recessive disorder, meaning that both parents must carry a copy of the mutated gene for their child to inherit the condition. If both parents carry the gene, each child has a 25% chance of inheriting MCADD. If one parent carries the gene, their child has a 50% chance of being a carrier. A carrier is someone who has a copy of the mutated gene but does not have the condition.

Inheritance/recurrence risk

Inheritance or Recurrence Risk:

• Autosomal Recessive Inheritance: As mentioned, both parents must carry a copy of the mutated ACADM gene for their child to inherit MCADD.
• Carrier Testing: Genetic testing can determine if someone is a carrier of the MCADD gene.
• Prenatal Testing: If a couple is at risk of having a child with MCADD, prenatal testing can be done to determine if the fetus has the condition.
• Recurrence Risk: If parents have a child with MCADD, there is a 25% chance that each future child will inherit the condition.