Homocystinuria
Diagnosinghomocystinuria
At around five days old, babies are now offered newborn blood spot screening to check if they have HCU. This involves pricking your baby's heel to collect drops of blood to test.
If HCU is diagnosed, treatment can be given to reduce the risk of serious complications. Treatment may include high doses of vitamin B6 (pyridoxine), a special diet, advice and sometimes medication.
With early diagnosis and the correct treatment, the majority of children with HCU are able to live healthy lives. However, treatment for HCU must be continued for life.
Babies born with HCU don't usually have any symptoms in the first year of their life. But severe symptoms can develop later in life without early treatment. These may include:
- vision problems, such as severe Short-sightedness
- weak bones (osteoporosis)
- bone and joint problems
- a risk of developing blood clots and strokes
Some children with untreated HCU are also at risk of brain damage, and their development might be affected.
Around 1 in 250,000 children are thought to be affected by HCU.
Medically Reviewed by a doctor on 21 Dec 2018
Introduction
Homocystinuria (HCU) is a rare but potentially serious inherited condition where the body can't process the amino acid methionine.
Diagnosinghomocystinuria
At around five days old, babies are now offered newborn blood spot screening to check if they have HCU. This involves pricking your baby's heel to collect drops of blood to test. If HCU is diagnosed
Treatinghomocystinuria
Vitamin B6 (pyridoxine) In some babies, it's possible to control the levels of homocysteine with high doses of vitamin B6 (pyridoxine). If this works, your child will need to take vitamin B6 suppleme
Howhomocystinuria is inherited
The genetic cause (mutation) responsible for HCU is passed on by parents, who usually don't have any symptoms of the condition. The way this mutation is passed on is known as autosomal recessive inhe
Information about your child
If your child has HCU, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists look for
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