Introduction to Biochemical Genetics

These flashcards cover key vocabulary and concepts introduced in the lecture on biochemical genetics and related treatments.

Biochemical Genetics

The study of genetic implications on biochemical processes in organisms.

Phenylketonuria (PKU)

A genetic disorder caused by a deficiency in the PAH enzyme leading to elevated phenylalanine levels.

Newborn Screening

A public health program that screens newborns for certain genetic disorders.

Inborn Errors of Metabolism

Genetic disorders that result in a disruption of metabolic pathways.

Transplantation

Medical procedure that replaces a dysfunctional organ with a healthy one.

Maternal PKU

A condition where a mother with PKU has high phenylalanine levels during pregnancy, affecting fetal development.

Galactosemia

A metabolic disorder where the body cannot properly process galactose, leading to toxic accumulation.

Urea Cycle Defects

Genetic disorders affecting the body's ability to eliminate ammonia via the urea cycle.

Cofactor Replacement Therapy

A treatment approach that uses organic compounds to aid enzyme function.

Enzyme Replacement Therapy

A treatment that involves supplying a missing or deficient enzyme in the body.

PKU Treatment

Management of PKU typically includes a strict low-phenylalanine diet.

Genetic Counseling

Guidance provided to individuals or families on genetic conditions.

Statins

Medications that inhibit cholesterol synthesis in the liver.

Hydroxyurea

A medication that can stimulate the production of fetal hemoglobin.

Clinical Phenotype

The observable characteristics or traits of an individual resulting from the interaction of their genotype with the environment.

Pharmacological Modulation

The use of drugs to influence gene expression or metabolic processes.

Sickle Cell Disease Treatment

Includes pharmacological approaches such as hydroxyurea.

Maternal Blood Phe Goals

Maintain maternal blood phenylalanine levels between 3-6 mg/dL during pregnancy.

Lysosomal Storage Disorder

A group of inherited metabolic disorders caused by enzyme deficiencies that affect lysosome function.

Liver Transplantation

A surgical procedure to replace a diseased liver with a healthy liver from a donor.

Phenylalanine Hydroxylase (PAH)

An enzyme that converts phenylalanine to tyrosine, critical for PKU management.

PSCK9 Inhibitors

Medications that prevent the breakdown of LDL receptors in the liver, lowering cholesterol levels.

Biotinidase Deficiency

A metabolic disorder caused by a deficiency of the enzyme biotinidase, affecting biotin availability.

Urea Cycle Function

The metabolic pathway by which the body removes ammonia, converting it to urea.

Tay-Sachs Disease

A genetic disorder caused by the absence of an enzyme that helps break down fatty substances in the brain.

Gaucher Disease

A genetic disorder characterized by the accumulation of glucocerebroside due to a deficiency in the GBA enzyme.

Homocystinuria

A genetic disorder resulting from a deficiency in cystathionine beta-synthase, leading to elevated homocysteine levels.

Cystic Fibrosis Newborn Screening

Test performed to detect cystic fibrosis in newborns through screening.

Dietary Management

Nutrition-based strategies to treat metabolic disorders and prevent complications.

Critical Congenital Heart Disease

Serious heart defects that are present at birth and often require immediate medical attention.

Sodium Benzoate

A pharmacological treatment used to manage urea cycle disorders by promoting alternative pathways.