Introduction to Biochemical Genetics

These flashcards cover key terms and definitions related to biochemical genetics and inborn errors of metabolism from the lecture notes.

Biochemical Genetics

Study of relationships between genes, proteins, and metabolism focusing on inherited metabolic disorders.

Inborn Errors of Metabolism

Inherited biochemical variations resulting from genetic deficiencies that cause blocks in metabolic pathways.

Metabolism

The sum of all processes required to maintain a living state, including energy production and waste elimination.

Enzymes

Proteins that act as biological catalysts to facilitate biochemical reactions.

Lysosomal Storage Disorders

Metabolic disorders caused by enzyme deficiencies leading to accumulation of substrates in lysosomes.

Phenylketonuria (PKU)

An aminoacidopathy characterized by a defect in phenylalanine metabolism due to PAH deficiency.

Galactosemia

Defect in carbohydrate metabolism due to deficiency of galactose-1-phosphate uridylyltransferase.

Tay Sachs Disease

A neurological disorder caused by a deficiency of Hexosaminidase A, leading to GM2 ganglioside accumulation.

Urea Cycle

Metabolic pathway that converts ammonia into urea, crucial for nitrogen excretion.

Cystinuria

Autosomal recessive disorder affecting the renal reabsorption of certain amino acids, leading to kidney stone formation.

Biotinidase Deficiency

Condition resulting from lack of biotinidase enzyme, causing impaired biotin recycling.

Primary Carnitine Deficiency

A disorder affecting fatty acid oxidation due to defective carnitine transport, leading to energy metabolism issues.

Familial Hypercholesterolemia

Genetic disorder characterized by high cholesterol levels due to defects in LDL receptors.