Exam 26: Metabolic Disorders

In glycogen storage disease type III, protein is used as an alternative source of glucose production, via the _______________ shunt.

What type of vegetable oil contains the most linolenic acid?​

Impaired metabolism of nutrients can be caused by a defective gene that results in a change to the binding site of cofactors.

_______________ is used to remove and detoxify waste products that accumulate in organic acid disorders affecting the metabolism of proteins, carbohydrates, and/or fats.

How many metabolic disorders can be screened for at a time using tandem mass spectroscopy?​

What is the most common amino acid disorder?​

Describe the etiology of urea cycle disorders.

Because galactose is a monosaccharide found in milk products, galactosemia may be rapidly fatal in infants if milk feedings are not discontinued.

Describe the acute nutritional interventions used for disorders of fat metabolism.

Sapropterindi hydrochloride is an oral formulation of the biologically active tetrahydrobiopterin, cofactor to the _______________ hydroxylase enzyme.

For hereditary fructose intolerance, treatment includes dietary restriction of fructose, sucrose, and what other compound?​

What is the affected amino acid in the metabolic disorder isovaleric acidemia?

What amino acid supplement used for metabolic disorders displays antiatherogenic, antioxidant, and immunomodulatory properties?

In addition to classic galactosemia, what are two variants of the disease?​

What is the affected amino acid in the metabolic condition phenylketonuria (PKU)?​

Skin lymphocytes or peripheral blood fibroblasts can be used to determine the extent of enzymatic activity present.

What occurs with the amino acid disorder homocystinuria?​

Untreated _______________ can cause neurologic abnormalities.

What is the function of riboflavin and thiamin in the respiratory chain?

Mitochondria are found in every cell in the human body.