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Metabolic and Genetic disorders| Liaquat National Hospital and Medical College

Metabolic and Genetic disorders

Metabolic and Genetic disorders is a sub-specialty of Paediatric Medicine. It is a very important sub-specialty which deals with hereditary, congenital and Genetic disorders, related with carbohydrates, protein and lipid metabolism in children. This specialty is related with a rare disease of inborn error of metabolism, which is usually present since birth but clinical symptom may appear in weeks to month, even year.

At LNH, a well-organized and comprehensive care set up has been established for newborn screening and treatment of Metabolic and Genetic disorders, which has been recently introduced in Pakistan.

At LNH, a well-organized and comprehensive care set up has been established for newborn screening and treatment of Metabolic and Genetic disorders, which has been recently introduced in Pakistan.

What is Metabolism

Metabolism refers to all chemical reactions that take place in our body to convert or use energy that we get from food. For example, metabolism is like an assembly line where raw material and waste products are constantly being used, produced, transported and excreted. The workers on assembly line are enzymes and other proteins that make chemical reactions happen.

Cause of Inherited Metabolic Disorders

In most inherited metabolic disorders, a single enzyme is either not produced by the body at all or is produced in a form that doesn’t work. The missing enzyme is like an absentee worker on the assembly line. Depending on that enzyme’s job, its absence means toxic chemicals may build up, or an essential product may not be produced.

Types of Inherited Metabolic Disorders

Hundreds of inherited metabolic disorders have been identified, and new ones continue to be discovered.

  • Galactosemia
  • Maple syrup urine disease
  • Phenylketonuria (PKU)
  • Glycogen storage diseases
  • Mitochondrial disorders
  • Peroxisomal disorders
  • Metal metabolism disorders
  • Organic academias
  • Urea cycle disorders

Services

Metabolic and Genetic disorders service treats patients with inborn error of metabolism. We accept all critical babies and children who need NICU/PICU care with acute crises of metabolic and Genetics disorders. Referrals of such patients from all over Pakistan are accepted here. We are also offering antenatal diagnosis of metabolic and Genetics disorders to the high risk families. We offer counseling related with metabolic and Genetic disorders to patient, parents and caretaker.

Education & Training

We are actively involved in teaching and training of Medical and post graduate students, related to metabolic and Genetic disorders. Clinical services and protocol treatment guideline as per international standard are being taught.

Frequently Asked Questions

Faculty

...
Dr. Shabbir Ahmed Mallick
Assistant Professor
Consultant Paediatrics, Neonatology & Metabolic Disorders

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Contact

Please call us on 021-34412474.