Homocystinuria
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 inheritance. This means a baby needs to receive two copies of the mutated gene to develop the condition one from their mother and one from their father. If the baby only receives one affected gene, they'll just be a carrier of HCU.
If you're a carrier of the altered gene and you have a baby with a partner who's also a carrier, your baby has:
- a 25% chance of developing the condition
- a 50% chance of being a carrier of HCU
- a 25% chance of receiving a pair of normal genes
Although it's not possible to prevent HCU, it's important to let your midwife and doctor know if you have a family history of the condition.
Any further children you have can be tested for the condition as soon as possible and given appropriate treatment.
You may also wish to consider genetic counselling for information and advice about genetic conditions.
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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