HTML Blog Post

Title: Understanding ACACB: A Rare Genetic Disorder


ACACB is a rare genetic disorder caused by mutations in the ACACB gene. This gene provides instructions for making an enzyme called acetyl-CoA carboxylase beta, which plays a crucial role in energy metabolism. Mutations in the ACACB gene disrupt the function of acetyl-CoA carboxylase beta, leading to a buildup of fatty acids and a deficiency of glucose.

Associated Diseases:

ACACB mutations can cause a range of health problems, including:

  • Aciduria: Accumulation of organic acids in the urine
  • Ketosis: Buildup of ketones, which can lead to diabetic ketoacidosis
  • Hypoglycemia: Low blood sugar levels
  • Cardiomyopathy: Heart muscle disease
  • Hepatomegaly: Enlarged liver
  • Developmental delay: Impaired cognitive and motor skills

Did you Know ?

ACACB deficiency affects approximately 1 in 100,000 people worldwide, making it an ultra-rare disorder.

Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.