2024_11_29_inborn_errors_of_metabolism_II

Genetic Disorder

An error in the DNA that codes for a protein; can be monogenic or polygenic.

Chromosomal Disorders

Disorders caused by an abnormal number of chromosomes, such as having one chromosome too many or missing.

BRCA1 and BRCA2

Tumor suppressor genes responsible for DNA repair; mutations increase breast cancer risk.

Apoptosis

Programmed cell death that normal cells undergo.

Cystic Fibrosis

A genetic disorder caused by a faulty CFTR protein, leading to thick mucus in lungs and other organs.

Prader Willi Syndrome

A genetic disorder caused by defects on chromosome 15, characterized by poor feeding, weak muscle tone, and obesity.

Autosomal Recessive Disorder

A genetic disorder that occurs when an individual inherits two copies of a mutated gene, one from each parent.

Polygenic Diseases

Diseases that are the result of multiple genes and environmental factors, such as diabetes and heart disease.

Threshold Theory

A theory explaining that for polygenic diseases, a threshold of genetic and environmental factors must be surpassed.

Inborn Errors of Metabolism

Genetic disorders that result from the dysfunction of specific enzymes involved in metabolism.

Nutrigenetics

The study of how genes influence the metabolism of nutrients.

Nutrigenomics

The study of how nutrients influence gene expression.

Complex Multifactorial Disorders

Disorders that arise from a combination of genetic and environmental factors.

Monogenic Disease

A disease caused by a mutation in a single gene.

Acid Base Balance

The maintenance of the body's pH through various mechanisms, including the bicarbonate buffer system.

Obesity

A condition often influenced by genetic factors but also affected by behavior and environment.

CVD (Cardiovascular Disease)

A complex multifactorial disorder involving the heart and blood vessels.

Hemophilia A

A genetic disorder that affects the blood's ability to clot.

Gaucher Disease

A chronic enzyme deficiency that leads to the accumulation of fatty substances in certain organs.

Sickle Cell Anemia

A chronic inherited condition in which red blood cells sickle and obstruct blood flow.

Alzheimer Disease

A degenerative brain disorder marked by memory loss and cognitive decline.

Phenylketonuria (PKU)

An inborn error of metabolism that leads to intellectual disability if untreated.