What is PKU (phenylketonuria)?

When you have phenylketonuria, often known as PKU, your body has trouble metabolizing the amino acid phenylalanine. Protein synthesis in the body is aided by amino acids. Phenylalanine builds up in the blood and affects health if left untreated. About 1 in 10,000 babies are born in the US each year with PKU. Every ethnic group is affected by the disease. However, it affects Whites, American Indians, and Alaska Natives more frequently than Blacks, Ashkenazi Jews, or Japanese.

What causes PKU?

PKU is hereditary. This indicates that genes are used to transmit it from parent to child. A gene is a component of your cells that contains instructions for how your body develops and functions. Genes are inherited in pairs, with one copy from each parent.
Gene instructions can alter from time to time. This is referred to as a gene mutation or alteration. Gene alterations can be passed down to offspring by parents. An altered gene can occasionally result in improper gene function. It can occasionally result in birth abnormalities or other medical issues. A health issue in a newborn at birth is referred to as a birth defect.
To have PKU, your infant must inherit a gene alteration from both parents. If they have the PKU gene mutation from just one parent, they do not actually have PKU. When this occurs, your child is referred to as a PKU carrier.

What issues might PKU bring about?

PKU infants initially seem healthy during their first several months of infancy. But if left untreated, kids start to exhibit the sickness’ signs and symptoms at around 6 months old. These consist of:

• The arms and legs move in jerky motions.
• darker eyes and skin Melanin, the bodily pigment that determines skin and hair color, cannot be produced properly in PKU-affected infants.
• Musty body smell
• Seizures
• Raised skin.
• limited head size
• To sit, crawl, or walk takes longer than anticipated.
• a decline in interest in the environment
• Cognitive and social skill delays
• problems with the intellect
• hyperactivity and other behavioral issues

What do we do for PKU children?

Diet food (electric oven on the table).

Medication: Quan pills (anti-seizure and sedative), and powdered medication milk (two glasses daily).

Therapy (speech and occupational therapy for the brain).

Supportive Equipment and Products for PKU

Wheelchair.

Easy Life & Mbaby.