What form of inheritance is involved (if any) in metabolic diseases?
Please explain in detail
Some metabolic diseases inherited as recessive pattern and some inherited as dominant pattern. Hereunder we take three metabolic disorders.
1. Phenylketonuria:- phenylketonuria is the most common metabolic disorders in aminoacid metabolism.
- It is due to deficiency of hepatic enzyme phenylalanine hydroxylase, caused by an autosomal recessive gene.
- so this disease is inherited as autosomal recessive pattern.
- phenylketonuria primarily causes the accumulation of phenylalanine in tissue and blood, and results in increased excretion in urine.
2.Another metabolic disorders is Alkaptonuria . The defective enzyme is homogentisate oxidase in tyrosine metabolism. Homogentisate accumulates in tissues and blood , and is secreted into urine.
- Alkaptonuria is inherited as autosomal recessive pattern.
3. The third metabolic diseases we discuss is Familial hypercholesterolemia.
This disease causes high levels of LDL cholesterol levels begining at birth and eventually heart attack at an early age.
This disease is inherited as autosomal dominant pattern.
Hopefully it helps if problems arises plz comment thanks.
What form of inheritance is involved (if any) in metabolic diseases? Please explain in detail
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