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Vad är MCAD?

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Innehållsförteckning:

  1. Vad är MCAD?
  2. What is MCAD and what are the symptoms?
  3. What happens if MCAD is left untreated?
  4. What is the pathophysiology of MCAD deficiency?
  5. What is the difference between Reye syndrome and MCADD?

Vad är MCAD?

MCAD-brist är en medfödd, ärftlig ämnesomsättningssjukdom (metabol sjukdom) som orsakas av brist på ett enzym som behövs för nedbrytning av fettsyror i kroppen. Sjukdomen brukar oftast ge de första symtomen mellan 3 och 24 månaders ålder, men den kan också visa sig så tidigt som under de första levnadsdagarna.

What is MCAD and what are the symptoms?

The disorder can lead to early health problems, such as vomiting and lack of energy. With MCAD, a defect (mutation) in your genes changes the way your body breaks down some fats. Genetic testing can reveal whether you have these mutations.

What happens if MCAD is left untreated?

Left untreated, it can lead to seizures, breathing difficulties, coma and other serious health problems. MCAD deficiency is an inherited disorder. Signs and symptoms typically first appear in babies and young children. The disorder can lead to early health problems, such as vomiting and lack of energy.

What is the pathophysiology of MCAD deficiency?

MCAD deficiency is the condition in which the enzyme required for oxidation of fatty acids is absent in the body. This condition is genetically inherited and is inherited in autosomal recessive manner. Various complications develop due to improper management of the disease.

What is the difference between Reye syndrome and MCADD?

While Reye Syndrome has been specifically linked to aspirin use in children, MCADD is not associated with the use of any specific medication. 4 The primary way to treat MCADD is to prevent the symptoms of the condition from developing, as they can be quite serious.