Phenylketonuria - Learn more
Birth defects and genetics collection
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Animation, Educational, Special Interest
Phenylketonuria (PKU) is a genetic condition that prevents the breakdown of phenylalanine, an amino acid that plays an important role in metabolism. A build-up of phenylalanine in the body can lead to an intellectual disability.
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Progeria - Learn more
Progeria is a rare genetic disorder that causes a child to age rapidly, giving them an average life expectancy of 13 years. Symptoms begin to appear in the first two years of life. It’s also known as Hutchinson-Gilford progeria syndrome, or HGPS.
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Spina bifida - Learn more
Spina bifida is a birth defect involving the spine, spinal cord and the protective covering of the spinal cord, called the meninges. It is part of a group of disorders called neural tube defects that can occur to a foetus during pregnancy.
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Talipes (club foot) - Learn more
Talipes occurs when a baby is born with a foot and ankle twisted out of shape or position. One of the more well-known forms of talipes is clubfoot (talipes equinovarus). However, there are other forms of the condition.
