Question

mention the causes and effects of phenylketonuria. { make answer as points }.​

Answer 1

Phenylketonuria ( PKU) is a rare genetic disorder.

Phenylketonuria allows the amino acid to build up in the body called phenylalanine.

All proteins and certain artificial sweeteners contain phenylalanine.

Phenylketonuria is caused by a gene defect that leads to the formation of phenylalanine hydroxylase.

A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body.

Neurological problems that may include seizures.

Skin rashes (eczema) Fair skin and blue eyes, because phenylalanine can't transform into melanin — the pigment responsible for hair and skin tone.

Answer 2

Phenylketonuria is a condition in which the amino acid phenylalanine is accumulating inside the body.
Cause:
The disease is caused due to the defective gene of phenylalanine hydroxylase involved in the digestion of the amino acid phenylalanine. When the phenylalanine is not broke down, it starts accumulating in the body.
Effects:
Intellectual problems
Seizures
Behavioral problems
Delayed growth
Skin disorders
Musty odour in the urine and breath


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