Genetics-Metabolic Disorders

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 Disorders

Genetic Transmission Patterns

Patterns of Transmission AD Inheritance AR Inheritance Mitochondrial Inheritance Psudominant Inheritance Digenic Inheritance Y-Linked Inheritance Mosaicism Imprinting

Diagnosis and Human Genome

Diagnostic Tests Genetic Counselling Human Genome Project Treatment

Cytogenetics

Chromosomal Analysis Down Syndrome Trisomy 18 Trisomy 13 Sex Chromosome Aneuploidy Chromosome Instability Fragile Sites Abnormal Chromosomal Structures Triplet Repeat

Clinical Case and Viva QnA

Down Syndrome

Inborn Errors of Metabolism

Diagnosis

Approach to IEM Newborn Screening

Defects in Metabolism of Amino Acids

Urea Cycle Defects Cysteine-Cystine Phenyalanine Tyrosine Methionine Albinism Proline Glutamic Acid Glycine Tryptophan

Defects in Metabolism of Lipids

Mitochondrial Oxidaton VLCF Acids Lipoprotein Metabolism Lysosomal Storage Mucolipidoses

Defects in Metabolism of Carbohydrates

Glycogen Storage Disease Galactose Metabolism Fructose Metabolism Lactic Acidosis Pentose Metabolism Glycoprotein Metabolism Glycosylation

Mitochondrial Disease Diagnosis

Mucopolysaccharidoses Gout Progeria Porphyrias Hypoglycemia Diagnostic of Mitochondrial Disease

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