Exam 26: Metabolic Disorders

What is the affected amino acid in the metabolic disorder 3-hydroxyisobutyric aciduria?​

What type of fatty acids are linoleic and linolenic acids?

Mitochondria are essential for the production of _______________ in all types of tissues.

Describe how clinicians screen for multiple metabolic disorders in infants.

Methylcrotonylglycinuria is a metabolic disorder of what branched-chain amino acid?

Toxicity is not a concern when megavitamin doses of what vitamins are used?​

Fructose-induced hypoglycemia results from inhibition of gluconeogenesis and what other process?​

Vitamin-responsive forms of methylmalonic acidemia are treated with pharmacological amounts of what vitamin?​

What type of glycogen storage disease causes a muscle phosphorylase deficiency?​

Describe supplementation of end products as an approach for chronic management of metabolic disorders and provide a specific example.

Urea cycle disorders result in an impaired capacity of the body to excrete nitrogen in the form of urea.

Enzymatic precursors can accumulate as a direct result of a block or as a result of impaired _______________ related to the inability to produce the end substrate.

What is the most predominant type of mitochondrial disorders?​

How many enzymes are needed to convert fructose into intermediates of the glycolytic gluconeogenic pathway? ​

How long are medium chain triglycerides?​

In holocarboxylase synthetase deficiency, what vitamin supplement is used as treatment and to prevent serious complications?​

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

What is the highest total amount of phenylalanine that PD should consume during any single day?

What are PD's daily caloric needs?

Explain how fructose is normally metabolized.