Exam 26: Metabolic Disorders

Describe the causes, symptoms and incidence of galactosemia.

With the exception of ornithine transcarbamylase (OTC) deficiency, all urea cycle disorders have a(n)_______________ recessive mode of inheritance.

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

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

What trisaccharide made of galactose, fructose and glucose cannot be digested by people?

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

Discuss the epidemiology of amino acidopathies.

Selective neonatal screening is the testing of an individual known to be at increased risk for a _______________ disorder.

What is a common secondary consequence of metabolic defects?

People from what region seem to have much less incidence of fat metabolism disorders?​

The genetic defect in phenylalanine hydroxylase leads to a reduction in or an absence of phenylalanine hydroxylase activity.

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

While certain amino acids may be restricted in individuals with inborn errors of metabolism, essential nutrients, such as proteins, cannot be restricted over a prolonged period as the body will become ________________ if deprived for an extended period of time.

Describe the acute nutritional interventions used for urea cycle disorders.

Describe the use and benefits of sapropterin dihydrochloride.

Some of the galactose in fruits and vegetables may be found as the galactose _______________, raffinose and stachyose, and hence is most likely unavailable for absorption.

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

Define the alanine shunt and in what disease it is used.

What are two common PKU characteristics that PD's mom likely noticed in her son?

Once inside the mitochondria, the process of beta-oxidation is used to convert the fatty acids to _______________.