Inherited Metabolic Disorders (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 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 which leads to a build-up of toxic substances in their bodies. Early and timely diagnosis and proper management are necessary for positive outcomes with 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 one of the very few hospitals in Pakistan with trained and qualified metabolic physicians who understand the unique challenges of patients with IMD and offer diagnostic testing services for IMDs. Almost two-thirds of the patients diagnosed with IMD are unable to pay for these treatments and require financial assistance. AKUH provides financial assistance for patients who cannot afford their treatment through patient welfare and The Patients’ Behbud Society (PBS) for AKUH. Please consider donating your Sadaqat and Zakat to PBS; your support can save a child's life.
Please click to contribute to the Sadaqat and Zakat fund for inherited metabolic disorders.