What are some metabolic diseases caused by amino acid or nucleotide synthesis/degradation mutations?

Expert Solution

The following are some of the metabolic diseases caused by amino acids:

Alkaptonuria: Alkaptonuria is caused by a mutation on your homogentisate 1,2-dioxygenase (HGD) gene. It's an autosomally recessive condition.
Phenylketonuria: its an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.The body can’t break down the amino acid phenylalanine
Tyrosinemia: The body can’t break down the amino acid phenylalanine and it will cause rickets, coma and death.
Maple syrup urine disease: Its the condition which may have urine that smells like maple syrup. In this disorder, the body can’t break down the amino acids leucine, isoleucine and valine.
Homocystinuria: Its a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites and it cannot breakdown the aminoacid homocysteine.
Isovaleric acidemia: Isovaleric acidemia (IVA) is an inherited disorder in which the body is unable to properly process proteins, leading to a toxic buildup of isovaleric acid in the blood.
Argininosuccinic acidemia (ASA): In this the body cannot remove ammonia or a substance called argininosuccinic acid from the blood. It leads in damage of the brain.

The following are some of the metabolic diseases nucleotide syntheis/degradation:

Gout: It is the type of arthritis which causes inflammation. The uric acid is deposited in soft tissues.
Orotic aciudia: It causes megaloblastic anemia, mental retardation and stunted growth.
Hydiopathic hyperuricemia: Overproduction of uricacid takes place.
Psoriasis: Roughness of the skin takes place.

gladiator answered 2 years ago

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