inherited metabolic disorders - flashcards

What is metabolism?

The sum of all chemical reactions that constitute the process of breakdown and renewal of body tissues.

What do special enzymes do in metabolism?

They break down food or chemicals for immediate use as fuel, storage, or to create other metabolites.

What are transporter proteins?

Proteins that move substances across the cell membrane.

What is the main function of mitochondria?

To break down glucose and fatty acids to produce ATP.

What do lysosomes contain and what is their function?

They contain digestive enzymes that break down macromolecules and waste materials.

What is the role of peroxisomes in metabolism?

They detoxify harmful substances and are involved in lipid metabolism.

What do transcription factors do in cellular metabolism?

They promote or repress the expression of genes involved in metabolism.

What is AMP-K and its role?

A cellular energy and nutrition sensor that stimulates glucose uptake and lipid oxidation.

What condition results from deficiencies in enzyme activity?

Inborn errors of metabolism (IEM).

What is the prevalence of IEMs?

About 1 in 800 to 2500 at birth.

What can be a consequence of enzyme deficiencies?

Accumulation of toxic substances that interfere with normal cellular function.

What type of errors can occur in organelles related to inborn errors of metabolism?

Disorders of metal metabolism, mitochondrial disorders, and storage disorders.

How can genetic mutations affect enzymatic functions?

They can cause deficiencies in enzyme activities, leading to metabolic disorders.

What is the urea cycle's function?

To remove nitrogenous waste by converting ammonia into urea.

How is glycogen metabolism regulated?

By glycogen synthase for glycogenesis and glycogen phosphorylase for glycogenolysis.

What is a key characteristic of Maple Syrup Urine Disease (MSUD)?

It is caused by mutations in the E1, E2, or E3 subunits of Branched-Chain α-Ketoacid Dehydrogenase.

Why is diagnosing IEMs often complicated?

Due to the overlapping biomarkers that can be involved in multiple metabolic pathways.

What may help in understanding genetic variations linked to metabolic diseases?

The identification of the effector transcript that explains the influence of genetic variants on diseases.

What are some symptoms of IEMs?

Vomiting, abnormal movement, seizures, weight loss, and progressive neurological deterioration.

What new therapeutic avenue is being explored for IEM management?

Gene therapy.

What impact can liver transplantation have on IEMs?

It can change the prognosis for some diseases but does not correct neurological damage.