Ieom

Front 1

Diabetic ketoacidosis
pathway?
odor description?

Back 1

-Glc
-acetone, fruit

Front 2

Hawkinsuria
pathway?
odor description?

Back 2

-tyr
-chlorine like

Front 3

Isovaleric acidemia
pathway?
odor description?

Back 3

-Leu
-sweaty feet

Front 4

Maple Syrup dz
pathway?
odor description?

Back 4

-Leu, Ile, Val
-caramel

Front 5

Oast House syndrome
pathway?
odor description?

Back 5

-Met
-Drying hops

Front 6

Methylmalonic aciduria
pathway?
odor description?

Back 6

-odd-chain FA, AA
-ammonia

Front 7

Phenylketonouria
pathway?
odor description?

Back 7

-Phe
-Mouse urine "diaper test"

Front 8

Propionic acidemia
pathway?
odor description?

Back 8

-Ile, Val, Thr, Met
-ammonia

Front 9

Trimethylaminuria
pathway?
odor description?

Back 9

-choline, carnitine
-fish

Front 10

Tyrosinemia I
pathway?
odor description?

Back 10

-Tyr
-Cabbage

Front 11

Urea cycle defect
pathway?
odor description?

Back 11

-Amino acids
-Ammonia

Front 12

4 main screening tests for IEoM?

Back 12

-PKU
-Galactosemia
-Hypothyroidism
-Mucopolysaccharidoses

Front 13

G6PDH deficiency

Back 13

-X-linked recessive
-needed to make NADPH to protect against oxidative damage
-favism, heinz bodies

Front 14

Galactosemia

Back 14

-Galactose isn't converted into Glc (galactitol + galactonate accumulates)
-eye lens osmotic swelling, cataracts
-tx= gal free diet

Front 15

Hereditary fructose intolerance
(HFI)

Back 15

fructoaldolase deficiency in liver, kidney, small intestine
-asymptomatic until fru ingested

Front 16

Frusctosuria

Back 16

-Hepatic fructokinase deficiency
-no pathology, no tx required

Front 17

Fru-1,6-bispase deficiency

Back 17

-prevents gluconeogenesis= exertional or fasting hypoglycemia + acidemia (lactate, pyruvate, ketone bodies)
-normal development if properly supported

Front 18

Lactase
persistence?
Restriction?

Back 18

-accumulation of mutation- in cis-acting DNA
-no lactase= dairy consumption leads to flatulence, abdominal pain, and diarrhea

Front 19

Glycogen storage dz: Oa

Back 19

defect in liver glycogen synthase GYSI
-hypoglycemia, high blood ketones, inc free FA, low ala level and lactate after fasting, hyperglycemia after meals

Front 20

Glycogen storage dz: Ob

Back 20

defect in muscle glycogen synthase GYS2
-Cardiomyopathy and exercise intolerance w absence of muscle glycogen

Front 21

Glycogen storage dz:
Von Gierke Ia

Back 21

-Glc-6-Pase defect in the lumen of the ER
-severe hypoglycemia after 2-4h after fasting since no blood glc from liver glycogen
-hyperlipidemia, xanthoma, liver/kidney damage, gout, liver adenomas
-tx:uncooked corn starch

Front 22

Glycogen storage dz:
Von Gierke Ib

Back 22

-defect in glc-6-pase transport from cytosol into ER
-slow growth, small, hyperlipidemia, xanthomas, hepatomegaly, liver adenoma, neutropenia
-tx: GM-CSF, un-cooked corn starch

Front 23

Glycogen storage dz:
Pompe II

Back 23

-alpha maltase (a-1,4-glucosidase) in lysosomes of all organs
-infantile severe cardiomegaly=death
-in adults forms by enzyme reducing con'c= slow muscle hypotonia progression
-tx: high protein/low carb diet, infusion of recombinant glucosidase precursor

Front 24

Glycogen storage dz:
Cori-Forbe IIIa

Back 24

-glycogen debranching enzyme defect in muscle + liver
-hepatomegaly, hypoglycemia, growth retardation, skeletal myopathy, cardiomyopathy

Front 25

Glycogen storage dz:
Cori-Forbe IIIb

Back 25

-similar to IIIa EXCEPT only the liver

Front 26

Glycogen storage dz:
Anderson IV

Back 26

-defect in branching enzyme leads to long, unbranched, insoluble glycogen that precipitates in liver
-hepatomegaly and liver cirrhosis, death by ~5yrs

Front 27

Glycogen storage dz:
McArdle V

Back 27

-defect in muscle phosphorylate
-exercise intolerance & muscle cramps, no Cori-cycle, rhabdomyolysis may lead to renal failure
-tx: glc before exercise or avoid strenuous exercise

Front 28

Glycogen storage dz:
Hers VI

Back 28

-defect in liver phosphorylase
-mild to moderate hypoglycemia, mild ketosis, growth retardation, prominent hepatomegaly
**good prognosis

Front 29

Glycogen storage dz:
Tarui VII

Back 29

-defect in muscle phosphofructokinase
-exercise intolerance with cramps, possibly rhabdomyolysis, myoglobinuria, hemolysis as same isoform expressed in RBC
-gout, AMP inc, compensatory inc of 2, 3 DPG, O2 affinity inc
-glucose intolerance

Front 30

Glycogen storage dz:
VIII

Back 30

X-LINKED!!!!
defect hepatic phosphorylase kinase
-hepatomegaly, growth retardation, elevated liver enzymes, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis
-tx: dextrothyroxine

Front 31

Glycogen storage dz:
Fanconi-Bickel XI

Back 31

-defect glc transporter GLUT-2, dec glc (+gal) uptake/release by liver, glc sensing in pancreas, re-uptake in renal tubules
-growth failure, rickets, osteopororsis, dwarfism, hepatomegaly, moon face...
tx: antiketogenic diet, water, electrolyte, and Vit D

Front 32

Lysosomal storage dz

Back 32

defective enzyme: accumulation of substrate in both lysosome and ECM
-defective protein accumulation in cells, inflammation, apoptosis, changes in PM composition

Front 33

Lysosomal storage dz:
infantile?
juvenile?
adult onset?

Back 33

-mostly neurological symptoms (seizures, dementia, brain stem dysfunction), death ~1st yr
-intermediate
-mostly systemic: hepatosplenomegaly, heart + kidney injury, abnormal bone formation, muscle atrophy and ocular dz

Front 34

I-cell disease

Back 34

Abnormal bone + joint development > dwarfism, hepatosplenomegaly, heart valve defects, failure to grow and develop motor skills, corneal clouding, death by age 7 (CHF or respiratory tract infection)

Front 35

Mitochondrial dz:

Back 35

-AR, most enzymes encoded in nucleus
-maternal inheritance, outbreak anytime any place
-organs with heavy respiratory activity most likely to be affected (muscle, nervous system)

Front 36

Pyruvate dehydrogenase

Back 36

E1-a-subunit most frequent
-defects in E3 also affects a-ketoglutarate and branched chain aa dehydrogenase
-lactic and pyruvic acidemia, lethargy, poor feeding, tachypnea, developmental delay, seizures, spasticity, ataxia, death

Front 37

Pyruvate dehydrogenase E1

Back 37

-dipromoter (ab)2
-X-linked recessive, symptoms seen in heterozygote female by X inactivation
-common cause of lactic acidosis in children
-low carb diet, high thiamin

Front 38

Leigh syndrome

Back 38

-caused by mutations in any of the 5 complexes of OxPhos or in PDH
-early onset progressive neurodegeneration with focal, bilateral lesions in CNS, demyelination, gliosis, necrosis, spongiosis, or capillary proliferation
[mito or AR inheritance]

Front 39

LEBER hereditary optic neuropathy

Back 39

-Acute or subacute central vision loss leading to central scotomia (blind spot), or blindness in mid-age
-neurologic manifestations
-susceptibilty for tobacco-alcohol amblyopia
-various mutations in mtDNA for complex I, III, IV