HOMOCYSTINURIA

SYMPTOMS

Homocystinuria-affected babies appear to be healthy. However, within the first several years of life, signs and symptoms will start to manifest. Moreover, homocystinuria has a distinct effect on each child. If the baby has it, children may exhibit a variety of symptoms or none at all:

• Pale hair and skin
• Chest problems
• Slow growth and weight gain
• Dislocation of the lens and severe nearsightedness that may lead to blindness
• Tall and slim body
• Long and thin fingers
• Bone fragility
• Blood clots
• Seizures
• Delays in development like crawling, walking, and talking
• Intellectual problems and learning impairments

DIAGNOSIS

Shortly after delivery, infants in America and in other countries are checked for homocystinuria and other disorders. They are checked through newborn screening, which is done using a blood test.

A blood test will be performed as part of the screening to see if the kid is at risk for homocystinuria. If the findings aren’t normal, they will need more blood and urine testing to be sure.

TREATMENT

A treatment plan will be recommended by a metabolic specialist who specializes in genetic disorders. In certain children, the vitamin aids in the prevention of behavioral and intellectual issues. It may also reduce the risk of bones, blood clots, and eye issues.

The youngster will also begin a low-methionine diet if vitamin B6 fails to help, which is often necessitated for the rest of the child’s life. Also, from infancy through adulthood, a nutritionist who specializes in amino acid problems can assist you in developing an eating plan.

The youngster will have had to avoid high-protein meals, such as:

• Cow milk
• Cheese
• fish and meat
• Eggs

You should get treatment right away to avoid complications.