Metabolic Disorders Clinical

Lipolysis starts about _____hours postparandial, and peaks around _____ hour. Similarly, gluconeogenesis peaks about _____ hours postparandial, but does not peak until _____ hour after

Glycogenolysis begins soon after we eat, and lasts for about ______

What are the 6 disorders from glycogen storage issue?

Voracious Penguins Create A Massive Hotdog is __________

What are disorders resulting form problems with gluconeogenesis?

Carbohydrate intolerance, aka the inability to metabolize specific sugars, could lead to _______ and _____

Severe lactic acidosis is seen in ______

When you can’t make glucose from amino acid, it is a disorder of _______, and example is _______

Urine reducing substances are seen in ______ disorders

Ketones is present in all conditions except _______

Leucine is severe in _____

NH4 is severe in _____

Ketones are present because of ____

Defects in carbohydrate metabolism would have _____ blood glucose, and ______ fat breakdown, therefore would have increased ______. Would liver size be normal?

Which of the glycogen storage disease affects the heart?

Which of the glycogen storage disease relates to hepatic glycogen phosphorylase deficiency?

Which of the glycogen storage disease relates to muscle?

Gluconeogenesis is the formation of glucose from mainly _____, ______, ____ and _______. First step involves ______ enzyme

Problem with gluconeogenesis would result in ________

Lots of pyruvate would be converted to _____ and _____. This is seen in _____ deficiency

What can be seen clinically in patients with pyruvate carboxylase deficiency? How is diagnosis confirmed?

Which of the carbohydrate disorder is X-linked?

Glucose 6 Phosphate dehydrogenase is needed, otherwise _____ can occur, and clinical presentation include _____, _____ and ____

A 2 week old baby presents with jaundice, emesis and hypoglycemia, you suspect_____, which is a deficiency in _______, and would treat with ____

If untreated galactosemia, what can develop?

Fructose-1-phosphate aldolase deficiency is seen in ____. Clinically this would present with ____, diagnosed by _____ and treat with ______.

T/F: carbohydrate disorders are characterized by hypoglycemia and lactic acidosis
True False

T/F: most metabolic disorder enzyme deficiencies are all autosomal recessive except for G6P dehydrogenase, and Hunter are X-linked
True False

A newborn that is feeding poorly, lethargy, vomiting, seizures or coma, and sepsis has been rule out: A) if NH4 and anion gap are normal, suspect _______. B) if NH4 normal or mildly elevated, but anion gap is high, suspect _____. C) if elevated NH4 but normal anion, suspect _______

High anion gap acidosis + high ammonia (NH4) = ____

What is organic acidemia?

Treat Methylmalonic acidemia with _____ and Propionic acidemia with _______

Aminoacidurias include:

Which of the aminoacdiurias has excess leucine in the blood?

Which of the aminoaciduria has a build up of PKU and tyrosine issue?

Which of the aminoaciduria has problem with methionine?

Aminoaciduria: Phenylketonuria has ____ deficiency, and leads to ____ accumulation in the brain. Clinically, patient presents with _____ skin, and smells like _____

Which metabolic condition makes you smell like a mouse?

Aminoaciduria: Alkaptonuria has _______ deficiency, and clinically presents with ________________

Kidney stone is the only symptom for this aminoaciduria condition:

This aminoaciduria condition can cause premature hart disease and stroke, as well as cataracts and lens dislocation:

Most common enzyme deficiency seen in urea cycle defects is ____

No acidosis, no ketones, no hypoglycemia, in respiratory alkalosis and severe elevated NH4, think ____

If you don’t want to smell like cat urine, take ____

Malonyl CoA is important in ______ synthesis, but it inhibits _______

During fasting, malonyl CoA level _____, which would actually allow for fatty acid ______, and this would _____ ATP and ______ ketone presence

T/F: there is great amount of ketones in Fatty acid oxidation defects
True False

What is defected in fatty acid oxidation defect?

5% Sudden infant death syndrome can be attributed to ______

Beta oxidation occurs in the ____, and go into the ______ in ______ to generate ATP

In fatty acid oxidation defect, _______ is blocked from happening, so there is an increased in _____ which would lead to increased ______ and _______, leading to ______

Medium chain consists of _____ carbons

How is fatty acid oxidation defect diagnosed?

Lysosomes contain ____ while peroxisomes contain ____

Examples of lysosomal storage disorder:

Clinical manifestation of lysosomal storage disorders:

T/F: babies with lysosomal storage disorder appears normal at birth but symptoms such as coarse facial features, corneal clouding, develop later
True False

Mucopolysaccharides have _____charges, and repel each other, acting as ____, so found in _______

Mucopolysaccharidoses: X-linked is _____, and gargoylism is _____

Heparan sulfate accumulation is seen in ___ and _____

How can mucopolysaccharidoses: Hurler and Hunter be treated?

Niemann-pick, Gaucher, Tay-sachs are all _______ disorder

Cherry-red macular spot is seen in______, and _____

Sphinoglipidosis have these in common:

Drunken baby syndromes are:

Very long-chain fatty acids is diagnostic for _____ disorder