Exam 25: Metabolic Disorders

People with PKU can have a musty or mousy smell due to phenylketones accumulating where?

Which type of glycogen storage disease is characterized by a deficiency of lysosomal acid alpha-glucosidase?

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 is the maximum total amount of phenylalanine that PD can consume every day?

Neonates with a metabolic disorder generally show acute central nervous system symptoms, including generalized or partial _______________.

In an autosomal recessive disorder, carrier parents have a _______________% chance of having an affected child with each pregnancy.

Explain how fructose is normally metabolized.

Which of the following is an insoluble component of starch?

What is the targeted blood Phe range, as recommended in the new ACMG guidelines, for all individuals with PKU?

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

3-methylcrotonylglycinuria is a metabolic disorder of which branched-chain amino acid?

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

Define the alanine shunt. In what disease is it used?

Fatty acids in the mitochondria are converted to ketone bodies by the process of _______________.

Which of the following diets is recommended for a patient with a hereditary deficiency of the enzyme aldolase B?

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

Which chemical compound is used to scavenge excess ammonia from the bloodstream?

Describe the causes, symptoms, and incidences of galactosemia.

Which vegetable oil has the highest amount of linolenic acid?

Describe the etiology of urea cycle disorders.

Untreated _______________ can cause neurologic abnormalities, seizures, and eczema.