Hamad Medical Corporation’s (HMC) Head of Clinical and Metabolic Genetics says early detection is the key to successfully managing rare conditions like Homocystinuria,  a serious genetic disease characterised by long-term complications. 
If left untreated, the inherited disorder, which interferes with the body’s ability to break down protein, can lead to bone damage, vision problems, brain damage and blood clots. 
Dr Tawfeg Ben-Omran, who is also a senior consultant, paediatrics at HMC, says early detection of rare diseases like Homocystinuria helps eliminate potential complications and ultimately improve long-term health outcomes for patients. He says babies born with this disease often show no warning signs during early life, but severe symptoms can develop later without treatment. 
“Homocystinuria is an inherited disorder that prevents the body from processing the essential amino acid methionine. It causes a build-up of the amino acid homocysteine in the blood and urine. Put more simply, when we eat our bodies break down the food and homocysteine is made. In most people, homocysteine is broken down further but for a person with Homocystinuria, this step cannot be completed,” said Dr Ben-Omran 
“Patients with Homocystinuria will require daily medication, a special diet, and ongoing treatment from a specialist physician and therapeutic nutritionist who may recommend a special diet. Left undiagnosed and untreated, the condition can cause cognitive and physical developmental delays. It can also lead to vision problems, weak bones, bone and joint problems, neurological and cardiac problems, blood clots and early stroke,” continued Dr Ben-Omran.
There are multiple forms of Homocystinuria, with the various types distinguished by their signs and symptoms and genetic cause. The most common form of the disease is thought to affect around one in 200,000 people worldwide. The disorder is more common in some countries, with Qatar having one of the world’s highest incidence rates. According to Dr Ben-Omran, genetic disorders are often more common in populations that have a high incidence of close blood marriages. He says that while a homocystinuria diagnosis can be overwhelming for patients and their families, it is a highly treatable disease, if diagnosed early.