Endocrine Flashcards
(52 cards)
Apolipoprotein expression
A = lcAt Activation B-48 = chylomicron secretion (young secretion) B-100 = LDL receptor binding (mature uptake) C = Cofactor for LPL E = rEmnatns (uptake by liver)
LCAT vs. CETP
LCAT = esterification of cholesterol (produces mature HDL) CETP = transfer of cholesterol esters to other lipoprotein particles
LPL function
Lipoprotein lipase (requires apoC cofactor)
Chylomicrons -> chylomicron remnants
VLDL -> IDL
Familial dyslipidemias (and deficiencies)
I: Hyperchylomicronemia (LPL or apoC deficiency)
II: Hypercholesterolemia (absent LDL receptor or B-100)
III: Dysbetalipoproteinemia (apoE defect)
IV: Hypertriglyceridemia (overproduction of VLDL)
Glucagonoma:
What is it?
Presentation
Tx
Tumor of a cells: glucagon production 5 D's: Dermatitis (necrolytic migratory erythemia) Diabetes (hyperglycemia) DVT Declining weight Depression
Tx: octreotide, surgery
Insulinoma
Tumor of ß cells: insulin production Whipple triad: Low blood sugar, symptomatic hypoglycemia, resolution with glucose Use C-peptide (vs exogenous insulin) MEN-1
Somatostatinoma
Tumor of delta cells: SST production, decreased other pancreatic productions
Pres: diabetes, steatorrhea, gallstones
Hormone secreting tumors of the pancreas
a cells = glucogonoma
ß cells = insulinoma
delta cells = SSToma
ZE = gastrinoma
Fabry dz Inheritance Major s/sx Deficient enzyme Accumulated substrate
XR
Peripheral neuropathy, angiokeratomas, hypohidrosis
a-galactosidase A
Ceramide trihexoside
Gaucher dz Inheritance Major s/sx Deficient enzyme Accumulated substrate
AR HSM, pancyto, osteoporosis, aseptic necrosis, bone pain Crumpled tissue paper macs Glucocerebrosidase Glucocerebroside
Niemann-Pick Inheritance Major s/sx Deficient enzyme Accumulated substrate
AR
Neurodegeneration, cherry red spot, foam cells, HSM
Sphingomyelase
Spingomyelin
Tay-Sachs Inheritance Major s/sx Deficient enzyme Accumulated substrate
AR
Neurodegeneration, cherry red spot, onion skin lysosomes, NO HSM
Hexosaminidase A
GM2 ganglioside
Krabbe Inheritance Major s/sx Deficient enzyme Accumulated substrate
AR
Peripheral neuropathy, developmental delay, optic atrophy
Galactocerebrosidase
Galactocerebroside
Metachromatic leukodystrophy Inheritance Major s/sx Deficient enzyme Accumulated substrate
AR
Central/peripheral demyelination, ataxia, dementia
Arylsulfatase A
Cerebroside sulfate
Hurler syndrome Inheritance Major s/sx Deficient enzyme Accumulated substrate
AR
DDelay, gargoylism, airway obstruction, corneal clouding, HSM
a-L-iduronidase
Heparan sulfate/dermatan sulfate
Hunter syndrome Inheritance Major s/sx Deficient enzyme Accumulated substrate
XR
Mild Hurler, aggressive, NO corneal clouding
Iduronate sulfatase
Heparan sulfate/dermatan sulfate
B1
Name
Cofactor
Deficency
Thiamine ATP: a-ketoglutrarate DH (branched chain), Transketolase, Pyr DH Wernicke-Korsakoff Dry beriberi Wet beriberi
B2
Name
Cofactor
Deficency
Riboflavin
FAD and FMN formation (succinate DH)
Cheilosis, corneal vascularization
Sucs to suck (lips)
B3 Name Cofactor Deficency Excess
Niacin
NAD+, NADP+ reactions
Glossitis, pellagra
Hartnup disease
Facial flushing (PG rxn, take aspirin)
Hyperglycemia
Hyperuriemia
B7
Name
Cofactor
Deficency
Biotin Carboxylation enzymes Pry -> OAA (pry ca) a-CoA -> malonyl-CoA (acetyl-CoA ca) propionyl-CoA -> methylmalonyl-CoA (prop-CoA ca) Dermatitis, alopecia, enteritis Abx use OR excessive raw egg whites
Lab findings in DKA
HyperK+ (putting H+ into cells)
HypoNa+ (trying to reduce volume)
Glucose up
Pseudohypoparathyroidism lab findings
End organ resistance to PTH
Low Ca, High Phos, High PTH
GNAS-1 defect -> short metacarpal/tarsal bones
Hypoketotic hypoglycemia
May look like Glycogen storage problem but:
Medium chain acyl-CoA DH deficiency
Classic hypoketotic
S/Sx: vomit, seziure, coma/lethargy, hepatomegaly
Autoimmune gastritis
Decreased acid production -> increased gastrin release
Parietal cells also decreased -> less intrinsic factor
