Part II Diseases Flashcards
Fructose 1,6 bisphosphatase deficiency
Symptoms, which pathway is affected, and treatment
- Hypoglycemia, severe lactic acidosis
- Gluconeogenesis
- Frequent carb feeding
Glucokinase deficiency (What 1 allele KO causes, what 2 allele KO causes, and what activating mutation causes)
- MODY
- Neonatal diabtes
- Hyperinsulinemic hypoglycemia
Pyruvate kinase deficiency
What builds up?
What are the symptoms?
Glycolytic intermediates like 2,3 BPG
-Hemolytic anemia, burr cells
PDH Deficiency
-how can it happen?
Symptoms
Treatment
- Mercury or arsenic poisoning or thiamine deficiency
- Acidosis, hyperventilation, muscle/abdominal pain
- High fat, low carb diet (ketogenic) and dichloroacetate
Hereditary fructose intolerance
-effects
- hypoglycemia, vomiting, jaundice, lactic acidosis.
- glycogen degradation is inhibited because the Pi that should be lost is needed in glycogenolysis
Von Gierke Disease
- enzyme
- symptoms
- treatment
- glucose-6-pptase
- severe hypoglycemia due to inability to export glucose, hyperuricemia, hyperlipidemia, xanthomas, high lactate
- frequent feedings and uncooked starch
Cori’s Disease
- symptoms
- treatment
- hepatomegaly, hypoglycemia
- high protein diet, frequent feedings
Andersen’s Disease
- enzyme
- symptoms
- branching enzyme
- hepatomegaly, cirrhosis, early child death
Her’s Disease
- enzyme
- symptoms
- liver glycogen phophorylase
- hepatomegaly + fasting hypoglycemia (but gluconeo still works)
Tauri’s Disease
- enzyme
- symptoms
- muscle PFK-1
- decreased exercise tolerance, myoglobinuria, hemolytic anemia, similar symptoms as McCardles, but Tauri’s patients will have abnormal glucose test
Hurler Disease
- enzyme
- symptoms
- Alpha-L-Iurodinase
- hepatosplenomegaly, corneal clouding, developmental delay, thickening of respiratory secretions
Hunter’s Disease
- enzyme
- substrate buildup
- symptoms
- Iduronate sulfatase
- heparin or dermatan sulfate
- aggresive behavior, NO CORNEAL CLOUDING
Gaucher’s Disease
- enzyme
- intermediate build up
- symptoms
- Glucocerebrosidase
- Glucocerebroside
- bone pain, easy bruising, fatigue, purple spots on extremities, hepatosplenomegaly, pancytopenia, nosebleeds. TISSUE PAPER LOOKING MACROPHAGES FILLED WITH LIPIDS
Tay Sach’s Disease
- enzyme
- intermediate build up
- symptoms
- Hexoaminidase A
- ganglioside molecules
- Cherry red macula, NO HSM, neurological defects, onion skin lysosomes
Metachromatic Leukodystrophy
- enzyme
- intermediate buildup
- symptoms
- Arylsulfatase A
- cerebroside sulfate
- ataxia, dementia, white matter plaque on MRI
Krabbe Disease
- enzyme
- intermediate buildup
- symptoms
- galactocerebrosidase
- galactcerebroside
- neuropathy, optic atrophy, floppy limbs, globoid cells
Fabry’s disease
- enzyme
- intermediate build up
- symptoms
- alpha-galactoside
- trihexosylceremide
- neuropathy, angiokeratomas
Favism
- class 2 and 3
- symptoms
- class 3 is moderate, african
- class 2 is severe, mediterannean
- heinz bodies, hemolytic anemia
Methylmalonyl CoA mutase deficiency
- error in which pathway
- other possible cause
- symptoms
- breakdown of odd-chain FAs
- B12 deficiency
- methylmalonyl aciduria, peripheral neuropathy
CPT-1 Defect
- which organ is most affected
- symptoms
- liver
- reduced FA oxidation and ketogenesis
- elevated blood carnitine, hepatometagly, muscle weakness HYPOKETOTIC HYPOGLYCEMIA
MCAD Deficiency
-symptoms
- hypoketotic hypoglycemia, presents in infancy. HIgh levels of medium chain FAs, acyl carnitine, and dicarboxylic acids (due to omega oxidation pathway).
- Hyperammonia
Polycystic kidney disease
- cause
- symptoms
- renal transporter failure to reabsorb AAs
- high levels of urea and creatinine in blood, cysts in kidney, kidney stones, ammonia toxicity
Lesch-Nyhan Syndrome
- enzyme
- buildup and pathway blockade
- symptoms
- HGPRT
- PRPP buildup and blockage of GMP and IMP salvage
- because decreased salavage—> increased denovo. Self-harm, dystonia, mood lability, gout. Decreased GTP affects brain.
Orotic Aciduria
- enzyme
- symptoms
- pathway involved
- treatment
- orotate phosphoribosyl transferase or orotidylate decarboxylase
- megaloblastic anemia, excessive orotate in urine
- pyrimidine synthesis
- supplement with uridine to bypass block
