ACACB

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HTML Blog Post

Title: Understanding ACACB: A Rare Genetic Disorder

Description:

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.