Term
| What are the diagnostic metabolites for biotin deficiency? |
|
Definition
| Propionic acid, branched alpha keto acids |
|
|
Term
| What are the diagnostic metabolites for B12 deficiency? |
|
Definition
| Increased methylmalonate, homocysteine, and N5-CH3-FH4 (THF) |
|
|
Term
| What are the diagnostic metabolites for hemolytic anemia or porphyria? |
|
Definition
|
|
Term
| What are the diagnostic metabolites for PKU? |
|
Definition
| Phe --> phenyllactate, phenylacetate, phenylpyruvate |
|
|
Term
| What are the diagnostic metabolites for Hypoxia? |
|
Definition
| Lactic Acid and non-hypoxic origins |
|
|
Term
| What are the diagnostic metabolites for hyperammonemia? |
|
Definition
| Citrulline, argininosuccinate, etc |
|
|
Term
| What are the diagnostic metabolites for biopterin or biopterin reductase deficiency: |
|
Definition
: decrease in
5-hydroxy-indoleacetic, vanillyl mandelic acid, homovanillic acids |
|
|
Term
| What are the diagnostic metabolites for folic acid deficiency? |
|
Definition
| formiminoglutamic acid (FIGLU from Histidine) |
|
|
Term
| What are the diagnostic metabolites for diabetes mellitus? |
|
Definition
| glucose (blood and urine), HbA1c, DKA |
|
|
Term
| What are the diagnostic metabolites for fructose intolerance? |
|
Definition
| fructose and fructose 1-Pi |
|
|
Term
| What are the diagnostic metabolites for Cystinuria with basic A.A. renal transporter defect? |
|
Definition
| decrease in reabsorption; cysteine and cystine-cystine kidney stones |
|
|
Term
| What are the diagnostic metabolites for Hartnup's disease: neutral aminoaciduria: |
|
Definition
| Trp loss, --> decrease in Niacin, decrease in neutral AA transport in intestine and renal tubules |
|
|
Term
| What are the diagnostic metabolites for Homocystinuria (homocysteinemia): |
|
Definition
| homocysteine (decrease in cystathione synthase) |
|
|
Term
| What are the diagnostic metabolites in Gaucher's disease? |
|
Definition
| glucocerebrosides (lysosomal disorder) |
|
|
Term
What type of intolerance was there in it?
Diabetes mellitus, fructose intolerance, Cushing's disease, Galactosemia, lactose intolerance |
|
Definition
|
|
Term
| What type of intolerance is involved with methylmalonyl aciduria, maple syrup urine disease, vitamin B12/Biotin deficiency, urea cycle deficiency, phenylketonuria |
|
Definition
|
|
Term
| IN regards to lipid intolerance what causes an increase in VLDL or chylomicrons - hypertriglyceridemia |
|
Definition
|
|
Term
| What lipid intolerance in the carnitine pathway results in hypoketotic hypoglycemia |
|
Definition
| absence/low ketone bodies |
|
|
Term
| Lipid intolerance in MCAD results in a decrease in oxidation of medium chain acyl CoA dH; low ketone bodies; and an increase in what due to peroxisomal/E.R. omega-oxidation |
|
Definition
|
|
Term
| What type of intolerance is involved in decreased PFK-1, McArdle's disease, Carnitine,CAT1 deficiency(hypoketotic hypoglycemia) MCAD deficiency |
|
Definition
|
|
Term
| What do diabetic ketoacidosis (hyperketotic hyperglycemia), organic acidurias (hyperketotic hypoglycemia), alcoholic ketoacidosis, and glycoegen storage disease (Von Gierke's) have in common |
|
Definition
|
|
Term
Excess Hepatic Glycogen Accumulation
Hypertriglyceridemia (increased FA)
Fasting Hypoglycemia
Hyperuricemia
Lactic acidemia
are hallmarks of ? |
|
Definition
| Glycogen Storage Disease (Type I) Von Gierke’s |
|
|
Term
Excess Hepatic Glycogen Accumulation
Hypertriglyceridemia (increased FA)
Fasting Hypoglycemia
Hyperuricemia
Lactic acidemia
are hallmarks of ? |
|
Definition
| Glycogen Storage Disease (Type I) Von Gierke’s |
|
|
Term
| What deficiency causes the liver to be glucose rich and peripheral to be glucose poor? |
|
Definition
| Glucose 6-phosphatase deficiency |
|
|
Term
| What are the four enzymes in humans that require biotin? |
|
Definition
| pyruvate (mitochondria), propionyl CoA, Acetyl CoA (cytoplasm), Methyl crotonyl CoA |
|
|
Term
There are three biotin deficiencies which are:
biotinidase deficiency, holocarboxylase deficiency, and what? |
|
Definition
| Raw Egg ingestion (avidin) |
|
|
Term
? - (anxiety, lethargy, disorientation, coma,
convulsions and death - Glucose - sole energy source for brain) |
|
Definition
|
|
Term
The following are all what?:
Glycogen Storage Diseases Carnitine Deficiency
Galactosemia Fatty Acyl CoA Dehyd. Deficiency
Fructose Intolerance Glycogen Synthase Deficiency
Gluconeogenic Enzyme Deficiency |
|
Definition
|
|
Term
| Alcohol and Insulin overdose are both |
|
Definition
|
|
Term
| Alcohol metabolism results in a high what to what ratio? |
|
Definition
| NADH to NAD+ (which results in the inability to convert lactate back to pyruvate) |
|
|
Term
| For what part of hte body is glucose the only fuel except, during prolonged starvation when ketone bodies (acetoacetate, Beta-hydroxybutyrate)are fuel. This part of the body does not store fuels. |
|
Definition
|
|
Term
| What are fatty acids a major energy source for? |
|
Definition
|
|
Term
| What are the largest glycogen stores for vigorous contraction where anaerobic glycolysis exceeds citrate cycle and also the largest protein source for starvation? |
|
Definition
|
|
Term
| Large amounts of what two amino acids produced during vigorous exercise or starvation participate in the Cori cycle? |
|
Definition
|
|
Term
| Lipolysis of adipose TAG is dependent on a hormone sensitive lipase that is activated by what three things and inhibited by insulin? |
|
Definition
| Epinephrine, glucagon, and ACTH |
|
|
Term
| Obligate Glycolyzers - Anaerobic glycolysis. These tissues are glucose - dependent and independent of what? |
|
Definition
|
|
Term
| What is absolutely NOT an obligate glycolyzer? |
|
Definition
|
|
Term
| For a normal person what is the life expectancy of someone who is fasting? |
|
Definition
|
|
Term
| Compounds that are not GNG Precursors include: ketone bodies, even chain fatty acids, ethanol, and ? and ? |
|
Definition
|
|
Term
| In the first phase of Glucose Homeostasis (0 - 4h Absorptive Phase: |
|
Definition
| GNG is halted and pyruvate converted to acetyl CoA |
|
|
Term
| In the 2nd phase of glucose homeostasis (postabsorptive (4-18 hours) what two things maintain blood glucose? |
|
Definition
|
|
Term
| In the 3rd phase of glucose homeostasi (hour 18) what results in "new blood glucose"? Also lipolysis increases. |
|
Definition
|
|
Term
| In the 4th part of glucose homeostasis (18-48 hours) There is rapid muscular wasting and what two things are at a maximum? |
|
Definition
| GNG Activity, urea production |
|
|
Term
| What is stage 5 of glucose homeostasis (2 - 24 days Intermediate Starvation) What are at maciumum levels and appear in cerebral spinal fluid and are utilized by brain? |
|
Definition
|
|
Term
| At the 6th phase of glucose homeostasis (greater than 24 days) what supply 2/3 of the brain's energy needs while "new" glucose is the remaining 1/3 |
|
Definition
|
|
Term
| What two things stimulate the secretion of insulin from beta cells of the pancreas? |
|
Definition
| Glucose and sulfonylureas |
|
|
Term
| Norepinephrine and epinephrine inhibit release of ? |
|
Definition
|
|
Term
| What stimulates secretion of glucagon from the alpha cells of the pancreas? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| What does Diabetes type two lack? |
|
Definition
|
|
Term
| Diabetes type two requires (besides HYPOcaloric diet and weight gain) two other things |
|
Definition
| Sulfonylureas and insulin |
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