Enzymes, Vitamins and Minerals: Deficiency Diseases

Enzyme Deficiency Diseases

  • Phenylketonuria (PKU): Caused by a deficiency of the enzyme phenylalanine hydroxylase, responsible for breaking down phenylalanine. Accumulation of phenylalanine can lead to intellectual disabilities, behavioral problems, and seizures if untreated.
  • Lactose Intolerance: Due to insufficient lactase enzyme, which breaks down lactose (milk sugar), leading to gastrointestinal symptoms like bloating, diarrhea, and abdominal pain after consuming dairy products.
  • Alkaptonuria: Arises from the lack of homogentisic acid oxidase, causing the accumulation of homogentisic acid. This condition may result in joint problems due to a dark pigment deposition in tissues.
  • Gaucher's Disease: Caused by a deficiency of the enzyme glucocerebrosidase, leading to ....
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