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.
- Hurler syndrome
- Niemen-Pick disease
- Tay-sachs disease
- Gaucher disease
- Fabry disease
- Krabbe disease
- Galactosemia
- Maple syrup urine disease
- Phenylketonuria (PKU)
- Glycogen storage diseases
- Mitochondrial disorders
- Peroxisomal disorders
- Metal metabolism disorders
- Organic academias
- Urea cycle disorders
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
The symptoms of genetic metabolic disorders vary widely depending upon the presence of problem in metabolism. Some symptoms of inherited metabolic disorders include:
- Lethargy
- Poor appetite
- Abdominal pain
- Vomiting
- Weight loss
- Jaundice
- Failure to gain weight or grow
- Development delay
- Seizures
- Coma
- Abnormal odor of urine, breath, sweat or saliva
Inherited metabolic disorders are present at birth, and some are detected by routine screening. If any Inborn Error of Metabolism (IEM) disorder is not detected, that is, diagnosed once symptom appears, at this stage, proper referral to a metabolic center is important to prevent complications.
Treatment for genetic metabolic disorders follow a few general principles:
- Reduce or eliminate intake of any food or drug that can’t be metabolized properly.
- Replace the enzyme or other chemical that is missing or to use certain vitamins as therapeutic agent.
- Remove toxic products of metabolism that accumulate due to the metabolic disorders.
Faculty
Dr. Shabbir Ahmed Mallick
Assistant Professor
Consultant Paediatrics, Neonatology & Metabolic Disorders
View Details
Contact
Please call us on 021-34412474.
