Exam 25: Metabolic Disorders

Organic acidemias are a subset of _______________ disorders that involve a dysfunction in the metabolism of intermediary products.

In patients with galactosemia, the enzyme defect occurs in uridyltransferase, which normally converts galactose, in the form of galactose-1-phosphate, to _______________.

Which amino acid disorder affects the metabolism of methionine?

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

The detection of inborn errors of metabolism is complicated by the fact that many symptoms are nonspecific and can be similar from one inborn error of metabolism to the next.

Fatty acids must be taken into the mitochondria using the leucine transport system.

What is the term used to refer to the variation in the presentation of metabolic disorders?

A pharmacologic dose of vitamin B₁₂is given to a newly diagnosed patient with _______________ acidemia to determine whether the enzymatic defect is vitamin responsive.

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

What is a common neurologic sign of inborn errors of metabolism in neonates?

Tandem _______________ allows clinicians to screen for over 30 metabolic disorders by analyzing metabolites in a blood spot collected on a filter paper from a simple heel prick on the newborn.

Mitochondria are found in every cell in the human body.

Which vegetable oil contains the highest amount of linoleic acid?

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

Which trisaccharide is not digested by humans?

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

Which vitamin, in pharmacological amounts, is used for the treatment of vitamin-responsive forms of methylmalonic acidemia?

PD is an 11-month-old boy with phenylketonuria (PKU). His mother brought him to an outpatient nutrition center in the local pediatric hospital for evaluation. Length: 28 inches Weight: 19 pounds (8.7 kg) -What are PD's daily caloric needs?

Discuss the epidemiology of amino acidopathies.

Which amino acid is affected in the metabolic condition maple syrup urine disease?