Genetics-Metabolic Disorders

Pediatric Neurology genetics

Welcome to our page on genetic and metabolic disorders in children, a comprehensive resource for understanding and managing these complex conditions. Whether you're a parent seeking information about your child's health, a healthcare professional looking for insights into diagnosis and treatment, or simply interested in learning more about genetic and metabolic disorders, our page is here to provide you with valuable information and support.

We cover a wide range of topics, including common genetic disorders such as Down syndrome, cystic fibrosis, and sickle cell disease, as well as metabolic disorders like phenylketonuria (PKU), maple syrup urine disease (MSUD), and lysosomal storage disorders. Our goal is to offer comprehensive insights into prevention, diagnosis, and management strategies, empowering families and healthcare providers alike to better understand and address these conditions in children.


Learning Applications

genetic diagnostic findings


Genetic Disorders

Genetic Transmission Patterns

Diagnosis and Human Genome

Cytogenetics

Clinical Case and Viva QnA

Inborn Errors of Metabolism

Diagnosis

Defects in Metabolism of Amino Acids

Defects in Metabolism of Lipids

Defects in Metabolism of Carbohydrates

Mitochondrial Disease Diagnosis

Mucopolysaccharidoses

Disorders of Purine and Pyrimidine

Hutchinson-Gilford Progeria Syndrome

The Porphyrias

Hypoglycemia

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