Gluconeogenesis is the formation of glucose from mainly _____, ______, ____ and _______. First step involves ______ enzyme
Problem with gluconeogenesis would result in ________
Severe lactic acidosis
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?
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 ____
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)
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
T/F: most metabolic disorder enzyme deficiencies are all autosomal recessive except for G6P dehydrogenase, and Hunter are X-linked
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
Urea cycle disorders with severely elevated NH4
High anion gap acidosis + high ammonia (NH4) = ____
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 _______
Maple syrup urine disease
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?
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?
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:
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 ____
Urea cycle defects
If you don’t want to smell like cat urine, take ____
(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
Fatty acid oxidation
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
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?
Obtain acylcarnitine profile for a kid with hypoglycemia or rhabdomyolysis, this would show elevated fatty acid
Lysosomes contain ____ while peroxisomes contain ____