Lipolysis starts about _____hours postparandial, and peaks around _____ hour. Similarly, gluconeogenesis peaks about _____ hours postparandial, but does not peak until _____ hour after
2-3
Eighth
2-3
24
Glycogenolysis begins soon after we eat, and lasts for about ______
10-12 hours until all the storage is used up
What are the 6 disorders from glycogen storage issue?
1 Von Gierkes (G6P deficiency)
2 POmpe (lysosomal 1,4 glucosidase
3 Cori (1,6 glucosidase
4 Anderson (branching enzyme)
5 McArdles (Glycogen Phosphorylase)
6 Hers (glycogene phosphorylase)
(mnemonic is: Voracious Penguins Create A Massive Hotdog)
Voracious Penguins Create A Massive Hotdog is __________
Glycogen storage disease mnemonics
What are disorders resulting form problems with gluconeogenesis?
Pyruvate carboxylase
Gluoce-6-phosphate dehydrogenase deficiency
Carbohydrate intolerance, aka the inability to metabolize specific sugars, could lead to _______ and _____
While rest of carbohydrate disorders lactate is elevated but not severe
When you can’t make glucose from amino acid, it is a disorder of _______, and example is _______
Gluconeogenesis
Fructose 1,6-diphosphatase deficiency
Urine reducing substances are seen in ______ disorders
Carbohydrate: including glycogen storage, galactosemia, glucose intolerance, and pyruvate metabolism
Ketones is present in all conditions except _______
Fatty acid oxidation defects
Leucine is severe in _____
Amino aciduria
NH4 is severe in _____
Urea cycle problem
While mild in amino aciduria and organic acidemia
Ketones are present because of ____
Fat breakdown
Defects in carbohydrate metabolism would have _____ blood glucose, and ______ fat breakdown, therefore would have increased ______. Would liver size be normal?
Low blood sugar (hypoglycemia)
Increased fate breakdown
Resulting in ketones, and severe lactic acidosis (problems with gluconeogenesis)
Liver would be enlarged: hepatosplenomegaly
Which of the glycogen storage disease affects the heart?
Pompe (the PUMP is affected) – cardiomegaly, hepatomegaly, macroglossia
Accumulation of glycogen in lysosomes
Which of the glycogen storage disease relates to hepatic glycogen phosphorylase deficiency?
HERS Disease
Which of the glycogen storage disease relates to muscle?
Gluconeogenesis is the formation of glucose from mainly _____, ______, ____ and _______. First step involves ______ enzyme
Lactate
Pyruvate
Glycerol
Alanine
Pyruvate carboxylase
Problem with gluconeogenesis would result in ________
Severe lactic acidosis
Lots of pyruvate would be converted to _____ and _____. This is seen in _____ deficiency
Lactate
Oxaloacetate
Pyruvate carboxylase
What can be seen clinically in patients with pyruvate carboxylase deficiency? How is diagnosis confirmed?
Severe lactic acidosis
Seizures, hypotonia, coma.
Diagnosed by assay of pyruvate carboxylase activity in cultured skin fibroblasts
Which of the carbohydrate disorder is X-linked?
Glucose 6 phosphate dehydrogenase deficiency
Glucose 6 Phosphate dehydrogenase is needed, otherwise _____ can occur, and clinical presentation include _____, _____ and ____
Hemolysis/anemia
Dark urine
Pale skin
Fatigue
A 2 week old baby presents with jaundice, emesis and hypoglycemia, you suspect_____, which is a deficiency in _______, and would treat with ____
Galactosemia (could also be E coli sepsis)
Galactose-1-phosphate uridyl transferase
Treat with galactose-free diet
If untreated galactosemia, what can develop?
Brain damage (speech deficits)
Cataracts
Enlarged liver
Kidney damage
Fructose-1-phosphate aldolase deficiency is seen in ____. Clinically this would present with ____, diagnosed by _____ and treat with ______.
Hereditary fructose intolerance
Failure to thrive, hypoglycemia, Jaundice, vomiting hepatomegaly, liver and kidney failure
Diagnosed by Fructose in urine
Treat with diet restriction
T/F: carbohydrate disorders are characterized by hypoglycemia and lactic acidosis
True
T/F: most metabolic disorder enzyme deficiencies are all autosomal recessive except for G6P dehydrogenase, and Hunter are X-linked
True
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 _______
Aminoacidurias or galactosemia
Organic acidemias
Urea cycle disorders with severely elevated NH4
High anion gap acidosis + high ammonia (NH4) = ____
Organic acidemia
What is organic acidemia?
Mitochondrial accumulation of acetyl CoA metabolites
methylmalonic and propionic acidemia
Marked metabolic acidosis
Excretion of non-amino organic acids in urine
Treat Methylmalonic acidemia with _____ and Propionic acidemia with _______
Vitamin B12
Biotin
Aminoacidurias include:
Maple syrup urine disease
Phenylketonuria
Alkaptonuria
Cystinuria
Homocystinuria
Which of the aminoacdiurias has excess leucine in the blood?
Maple syrup pee
Which of the aminoaciduria has a build up of PKU and tyrosine issue?
Phenylketonuria
Alkaptonuria
Which of the aminoaciduria has problem with methionine?
cystinuria
Homocystinuria
Aminoaciduria: Phenylketonuria has ____ deficiency, and leads to ____ accumulation in the brain. Clinically, patient presents with _____ skin, and smells like _____
Tyrosine
Phenylalanine
Fair skin
Mouse
Which metabolic condition makes you smell like a mouse?
Phenylketonuria – a mousy odor
Aminoaciduria: Alkaptonuria has _______ deficiency, and clinically presents with ________________
Homogentisate oxidase deficiency
Dark urine, ochronosis (dark skin), arthritis
Kidney and prostate stones
Kidney stone is the only symptom for this aminoaciduria condition:
Cystinuria
This aminoaciduria condition can cause premature hart disease and stroke, as well as cataracts and lens dislocation:
Homocystinuria
Most common enzyme deficiency seen in urea cycle defects is ____
Ornithine
No acidosis, no ketones, no hypoglycemia, in respiratory alkalosis and severe elevated NH4, think ____
Urea cycle defects
If you don’t want to smell like cat urine, take ____
Biotin
(biotin deficiency, multiple carboxylase deficiency end up smelling like cat pee)
Malonyl CoA is important in ______ synthesis, but it inhibits _______
Fatty acid synthesis
Inhibits fatty acid oxidation
During fasting, malonyl CoA level _____, which would actually allow for fatty acid ______, and this would _____ ATP and ______ ketone presence
Drops
Fatty acid oxidation
Generate
Increase
T/F: there is great amount of ketones in Fatty acid oxidation defects
False; there are no ketones produced in fatty acid oxidation defects
What is defected in fatty acid oxidation defect?
Acyl-CoA dehydrogenase deficiency
5% Sudden infant death syndrome can be attributed to ______
Medium-chain acyl-coA dehydrogenase deficiency
(Fatty acid oxidation defect)
Beta oxidation occurs in the ____, and go into the ______ in ______ to generate ATP
Liver
TCA
Muscle
In fatty acid oxidation defect, _______ is blocked from happening, so there is an increased in _____ which would lead to increased ______ and _______, leading to ______
Beta oxidation
Acyl-CoA
Acylcarnitines
Fatty acid
Lipotoxicity
Medium chain consists of _____ carbons
8-10
How is fatty acid oxidation defect diagnosed?
Obtain acylcarnitine profile for a kid with hypoglycemia or rhabdomyolysis, this would show elevated fatty acid
Lysosomes contain ____ while peroxisomes contain ____