What is Genetic Counseling for Inborn Errors of Metabolism?

Genetic counseling for inborn errors of metabolism involves diagnosing metabolic disorders caused by genetic mutations. It helps in managing these conditions, understanding their progression, and planning for future care.

Benefits of Genetic Counseling for Metabolic Disorders

Early diagnosis and management can enhance the quality of life for individuals with metabolic disorders, providing targeted therapies and support.

Who Should Get Genetic Counseling for Metabolic Disorders?

Individuals with a family history of metabolic disorders or for those experiencing unexplained metabolic issues like developmental delay, obesity, unintentional weight loss, high blood pressure, high blood triglycerides, low levels of HDL cholesterol and insulin resistance should consider genetic counseling.

Genetic Testing for Metabolic Disorders

Genetic tests can identify mutations causing metabolic disorders, guiding diagnosis and treatment.

Example of Genetic conditions that can be Identified:

• Phenylketonuria (PKU)
•  Maple Syrup Urine Disease
•  Galactosemia
•  Methylmalonic Acidemia
•  Urea Cycle Disorders
•  Glycogen Storage Diseases
•  Tay-Sachs Disease
•  Niemann-Pick Disease
•  Pompe Disease
•  Biotinidase Deficiency