Can Isovalric Acidemia Be Detected During Prenatal Checkups?

Q: Can Isovalric Acidemia Be Detected During Prenatal Checkups?

Hello： Isovaleric acidemia is a rare congenital metabolic disorder that can be detected by performing a heel prick blood test on the baby three to five days after birth, using fluorescent immunoassay. <br>For related inquiries, you can contact the Newborn Screening Room at the Ta

Can isovaleric acidemia be detected during prenatal screening?

I have a classmate who underwent artificial insemination due to infertility and has successfully given birth to a healthy baby.
However, during the medical examination, the doctor suspected a case of isovaleric acidemia.
I would like to ask the doctor if isovaleric acidemia can be detected through certain prenatal screening tests.

Xiao Ping, 30~39 year old female. Ask Date: 2005/10/13

Dr. Li Guanghan reply Obstetrics and Gynecology

Hello: Isovaleric acidemia is a rare congenital metabolic disorder that can be detected by performing a heel prick blood test on the baby three to five days after birth, using fluorescent immunoassay.
For related inquiries, you can contact the Newborn Screening Room at the Taipei Pathology Center at 02-85962050, extension 401-403, or the Department of Obstetrics and Gynecology at Hsinchu Hospital.

Reply Date: 2005/10/13

More Info

Isovalric Acidemia (IVA) is a rare inherited metabolic disorder caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This enzyme is crucial for the breakdown of certain amino acids, particularly leucine. When this enzyme is deficient, toxic levels of isovalerylglycine and other metabolites can accumulate in the body, leading to various health issues, including metabolic crises, neurological problems, and developmental delays.

Regarding your question about whether Isovalric Acidemia can be detected during prenatal checkups, the answer is that it typically cannot be diagnosed through standard prenatal screening tests. Prenatal checkups usually include routine blood tests, ultrasounds, and sometimes non-invasive prenatal testing (NIPT) for chromosomal abnormalities like Down syndrome. However, these tests do not specifically screen for metabolic disorders like Isovalric Acidemia.

The most reliable way to diagnose Isovalric Acidemia is through newborn screening, which is performed shortly after birth. In many countries, this involves taking a few drops of blood from the newborn's heel (heel prick test) within the first few days of life. The blood sample is then analyzed for elevated levels of certain metabolites, including isovalerylglycine, which would indicate a problem with the metabolism of leucine.

If there is a family history of metabolic disorders or if the parents are known carriers of specific genetic mutations, genetic counseling and testing may be recommended before or during pregnancy. This can help assess the risk of having a child with Isovalric Acidemia or other inherited conditions. However, routine prenatal screenings do not include tests for metabolic disorders unless there is a specific indication or concern.

In summary, while Isovalric Acidemia cannot be detected during standard prenatal checkups, it can be identified through newborn screening shortly after birth. If there are concerns about the risk of metabolic disorders, it is advisable to consult with a healthcare provider or a genetic counselor for further evaluation and guidance. They can provide information on available testing options and the implications of any findings for the pregnancy and the newborn.

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