Inherited Metabolic Disorder (IMD) are a broad group of rare inherited genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolise) parts of food.
There are more than 700 disorders included in IMD. Children with a group of IMD are unable to consume breast milk or normal infant formula milk as babies. As older children and adults, they are unable to break down carbohydrates, fats or proteins that lead to toxic substances accumulating in their bodies. Early and timely diagnosis and proper management is the key for a good outcome of these disorders. Any delays in diagnosing babies with IMDs can lead to serious health issues – coma or brain damage – and even death.
The Aga Khan University Hospital (AKUH) is the only hospital in Pakistan with trained and qualified metabolic physicians who look after the unique challenges of patients with IMD, and offer diagnostic testing services for treatable IMDs. AKUH has also established a sponsorship programme for patients who cannot afford their treatment. Almost two-thirds of the patients diagnosed with IMD are unable to pay for these supplements and require financial assistance.
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