Phenylketonuric embryopathy

Phenylketonuric Embryopathy is a medical condition that arises due to maternal Phenylketonuria (PKU). PKU is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. If a pregnant woman has PKU and it is not controlled during pregnancy, it can cause a condition in the baby known as Phenylketonuric Embryopathy or Maternal PKU Syndrome.

Causes[edit | edit source]

Phenylketonuric Embryopathy is caused by high levels of phenylalanine in the mother's blood during pregnancy. This can occur if the mother has PKU and it is not well controlled. Phenylalanine is an amino acid that, at high levels, can be toxic to the developing fetus's brain and other organs.

Symptoms[edit | edit source]

The symptoms of Phenylketonuric Embryopathy can vary, but may include microcephaly (small head size), congenital heart defects, developmental delay, and intellectual disability. Some children may also have a low birth weight and slow growth.

Diagnosis[edit | edit source]

Diagnosis of Phenylketonuric Embryopathy is usually made through a combination of physical examination, medical history, and laboratory tests. These tests may include blood tests to measure the level of phenylalanine in the mother's blood, and genetic testing to confirm the diagnosis of PKU.

Treatment[edit | edit source]

Treatment for Phenylketonuric Embryopathy involves managing the mother's PKU. This usually includes a special diet that is low in phenylalanine, which can help to reduce the levels of this amino acid in the mother's blood. In some cases, medication may also be used.

Prognosis[edit | edit source]

The prognosis for Phenylketonuric Embryopathy can vary depending on the severity of the condition and the effectiveness of treatment. With early diagnosis and appropriate management of the mother's PKU, many of the symptoms of Phenylketonuric Embryopathy can be prevented or reduced.