• 4/30/2017
    To highlight the importance of early diagnosis, treatment and prevention of the long-term complications of homocystinuria (HCU) – a rare but potentially serious inherited condition - Hamad Medical Corporation’s (HMC) Dietetics and Nutrition & Clinical and Metabolic Genetics Departments, recently held an annual family educational day for children and adults affected by the disease and their families.

    The individuals affected by homocystinuria had a fun-filled day while their families had the opportunity to share experiences and knowledge about the high quality of care being received at HMC and how they and their children are coping with the disease.

    “We organized this family day to show our commitment to improving awareness of this rare genetic disease to improve the quality of life of children and adults with homocystinuria as well as their families through continuous life-long dietary and medical intervention. We also wanted families to acquire knowledge of homocystinuria by sharing their experiences around their children’s care pathway,” said Ms. Reem Al-Saadi, Director of Dietetics and Nutrition at HMC.

    According to Dr. Tawfeg Ben-Omran, HMC’s Senior Consultant, Pediatrics and Head, Clinical and Metabolic Genetics, “Homocystinuria is an inherited metabolic disorder.  Patients with Homocystinuria cannot break down the amino acid homocysteine (amino acids are the building blocks of protein), which the body makes from protein in our diet. Patients who are undiagnosed or off diet are at risk of cognitive and physical developmental delays, eye problems, bone abnormalities, neurologic and heart problems, blood clots and strokes.  They will have to remain on diet and be treated by a metabolic specialist and dietitians for their entire lives.”

    He noted that this is a very treatable condition and it is included in the National Newborn Screening Program in Qatar, which screens all newborns for many diseases including homocystinuria. However, Dr. Ben-Omran said if a child has not been screened at birth, parents can contact their doctor to make the necessary arrangements for the screening. The screening program has been running in Qatar since 2006.

    “If a child has been diagnosed with homocystinuria at birth, given prompt treatment and a suitable diet regimen and medical treatment, we can prevent eye and bone problems, heart disease, and expect normal intelligence. If diagnosed later, our expectations have to be lower depending on the level of damage. However, treatment can at least help prevent heart diseases, some neurologic problems and resulting complications,” said Dr. Ben-Omran.

    He stressed that homocystinuria cannot be blamed on either of the parents because both the mother and the father can be carriers of the bad gene. “Homocystinuria is nobody’s fault. If both parents are carriers, they have a 25 percent chance of having a child with homocystinuria. Like many genetic diseases, homocystinuria runs in families and like many hereditary diseases, marriage between relatives plays a role,” Dr. Ben-Omran emphasized.

    However, he noted that homocystinuria is not contagious like influenza and it is treatable but not curable. It is a lifelong disease.

    “With strict adherence to medications and a special low protein diet, a patient with homocystinuria can avoid most, if not all, of its symptoms and complications. Diet is key in the treatment of homocystinuria as patients are unable to process proteins. Even though for most people proteins are important, they are harmful for patients with homocystinuria,” explained Ms. Al-Saadi.

    She stressed that people with homocystinuria should not eat meat, chicken or fish neither should they drink milk nor eat eggs. “At Hamad Hospital, there are formulas and special medical food that contain all the essential nutrients that a child with homocystinuria needs without any of the harmful proteins. Patients and families should contact their doctor and dietician for specific details,” she added.