What is an enzyme deficiency disease?

Enzyme deficiencies may be associated with conditions such as galactokinase deficiency, Wilson's disease, albinism, phenylketonuria, and liver cysts.

1. Galactokinase Deficiency

This is a common digestive system enzyme deficiency disorder. Patients lack lactase, a digestive enzyme necessary for breaking down lactose, leading to an inability to digest lactose. This results in symptoms such as bloating, diarrhea, and indigestion.

2. Wilson's Disease

This is a disorder of abnormal copper metabolism. Due to deficient or dysfunctional copper-transporting proteins in the liver, copper accumulates in body tissues, impairing the function of multiple organs. The condition primarily manifests as liver disease, neurological symptoms, and involvement of multiple other organ systems.

3. Albinism

Albinism may result from a deficiency of tyrosinase, the enzyme responsible for catalyzing the conversion of tyrosine into melanin. When melanin production is reduced in the body, it typically leads to albinism and a lack of pigmentation in the skin and associated organs. Treatment may include medications such as chlortetracycline ointment, doxycycline tablets, or oxytetracycline tablets, used under medical supervision.

4. Phenylketonuria (PKU)

Phenylketonuria is generally caused by a deficiency of phenylalanine hydroxylase. Patients commonly present with delayed growth and intellectual development, seizures, and other symptoms. Treatment may involve medications such as levodopa, folic acid, and tetrahydrobiopterin, administered under medical guidance.

5. Liver Cysts

Liver cysts are often associated with digestive enzyme deficiency. Symptoms may be improved by adjusting dietary habits.

Patients are advised to pay attention to their diet and engage in appropriate physical activity to enhance immune function. If any discomfort occurs, prompt medical consultation and treatment are recommended.