Metabolic Diseases

Front 1

hemolytic anemia (2 causes)

Back 1

Glucose 6 phosphate dehydrogenase deficiency (relative, from hexose monophosphate shunt)

pyruvate kinase deficiency - glycolysis

Front 2

Arsenic mechanism and symptoms

Back 2

vomitting, rice water stools, garlic breath

inhibits lipoidc acid which destroys PDH complex and TCA alphaketogluterate dehydrogenase complex - esp along GI tract

Front 3

pyruvate dehydrogenase deficiency

Back 3

B1 deficiency (or other vitamins)

Neurologic deficits

TReat with ketogenic nutrients (fats, leucine, lysine)

Front 4

oxidative phosphorylation poison

Back 4

Oligomycin - inhibits ATPase
2,4 DNP, aspirin - uncouples
CO, CN, antimycin A, rotenone - ETC inhibitors

Front 5

chronic granulomatous disease

Back 5

NADPH oxidase deficiency
-cannot convert oxygen into oxygen radicals on own
-cannot form h2o2 therefore on own - require bacterial h2o2
-infections from catalase postiive bugs

Front 6

G6PD deficiency

Back 6

X linked
Heinz boddies (hemoglobin precipitate)
Bite Cells
lack of NADPH for glutathione reduction

Front 7

Fructose intolerance

Back 7

aldolase B deficiency
accumulation of fructose-1-phosphate which is normally converted to DHAP and Glyceraldehyde

F-1-P inhibits glycolysis
hypoglycemia, jaundice, failure to thrive, vomitting, cirrhosis

Front 8

Essential Fructosuria

Back 8

fructokinase deficiency
accumulation of fructose, shows up in blood/urine
benign

Front 9

Galactosemia

Back 9

lack of galactose-1-phosphate-uridyl transferase (normally turns UDP-Glu to UDP-Gal

get cataracts, hepatomegaly, failure to thrive, jaundice, MR

Front 10

galactokinase deficiency

Back 10

accumulate galactose which is turned to calacitol via aldose reductase in lens of the eye leading to cataracts.
don't form galactose 1 phosphate

Front 11

hyperamonia

Back 11

urea cycle deficiency, poison, liver disease
treat with benzoates or phenylbutyrate

tremor, slurring of speech,s omnolence, vomitting, cerebral edema, blurring of speech
(so all CNS edema related)

Front 12

phenylaalanine derivatives

Back 12

tyrosine (thyroxine) to Dopa (melanin) to dopamine to NE to Epi

Front 13

ornithine transcarbamoylase deficiency

Back 13

X linked recessive urea cycle defect (all others are autosomal recessive)

ornithine accumulates, lack of citruline formed

carbamoyl phosphate synthetase is Rate limitng and affected in other cases of urea cycle defects

orotic acid in blood and urine, low BUN, sx of hyper ammonia

Front 14

phenylketonuria

Back 14

lack phenylalanine hydroxylase or tetrahydrobiopterin

decrease phe and add tyr to diet

get mental retardation

Front 15

alkaptonuria

Back 15

homogentisic acid oxidase missing
-degrades tyrosine
-autosomal recessive, benign
dark connective tissue, pigmented sclera, urine turns black on standing, can have bad athraitis

Front 16

albinism

Back 16

tyrosinase deficiency (make melanin from tyrosine) or defective tyrosine transporters

Variable inheritance, high risk of skin cancer

Front 17

homocystinuria

Back 17

3 forms, but in all, cysteine becomes sessential - normally cysteine made from methionine

-cystathione synthase deficiency (treat with less methionine and more cysteine)
-less affinit of cystathionine synthase for pyridoxal phosphate
homocysteine methyl transferase deficiency

in all - MR, osteoporosis, tall stature, lens subluxation (so like marfan but with MR, high homocysteine)

Front 18

cystinuria

Back 18

defect of renal tubular AA transporter for cysteine (and ornithine, lysine)
cystine kidney stones (from disulfide links)

reat with acetazolamide to alkalinize urine

autosomal recessive

Front 19

maple syrup urine disease

Back 19

lack breakdown of branched amino acids (Isoleucine, valine, leucine), leading to CNS defects, MR and death

Front 20

SCID

Back 20

adenosine deaminase deficiency - turns adenosine to inosine
-buildup of dATP results in feedback of ribonucleotide reductase which prevents DNA synth and drops lymphocyte count

Front 21

Lesch Nyhan syndrome

Back 21

Defective purine salvage
-HGPRT deficiency (X linked, he's got purine recovery trouble)

converts guanine and hypoxanthine to GMP and IMP
-too much uric acid produced, giving retardation, self mutilation, aggression, gout, choreathetosis

since no purines are salvaged, all go to xanthine then uric acid

Front 22

Orotic aciduria

Back 22

lack de novo pyrimidine synthesis
-cannot turn orotic acid UMP to pyrimidine precurosr
-orotic aciduria, megaloblastic anemia, no hyperamonia or low BUN, oral uridine treats it

Front 23

Von Gierke's disease

Back 23

inability to turn glucose 6 phopshate into glucose
-glucose 6 phosphatase deficiency
-giant livier, fasting hypoglycemia, high blood lactate

Front 24

Pompe's disease

Back 24

lysosomal alpha 1, 4 glucosidase (turns glycogen to glucose + phosphate directly, found mainly in heart)
cardiomegaly and systemic findings leading to early death

Front 25

Cori's disease

Back 25

lacking debranching enzyme which breaks limit dextrans (4 glucose residues) down to glucose

milder form of Von gierke's but gluconeogenesis is in tact

Front 26

McArdle's disease

Back 26

muscle glycogen phosphorylase is inactive; cant break down glycogen, get painful muscle cramps, myoglobinurai w/ excersize

Front 27

Fabry's disease

Back 27

alpha galactosidase A deficiency
ceramide trihexoside accumulates

X linked

peripheral neruopathy, angiokeratomas, Cardiorenal disease

Front 28

GAucher's disease

Back 28

beta-glucocerebrosidase deficient

glucocerebroside accumulates
autosomal recessive
hepatosplenomegaly, aseptic necrosis of femur, tissue paper macrophages

Front 29

Niemann Pick Disease

Back 29

sphingomyelinase deficient
sphingomyelin accumulates
autosomal recessive
progressive neurodegeneration, cherry red spot on macula

Front 30

Tay-sachs disease

Back 30

hexosaminidase deficiencs
GM2 ganglioside accumulates
autosomal recessive
progressive neurodegeneration, developmental delay, cherry red spot

Front 31

krabbe's disease

Back 31

galactocerebrocidase
galactocerbroside accumulates
autosomal recessive
peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Front 32

metachromatic leukodystrophy

Back 32

arylsulfatase A deficient
cerebroside sulfate accumulates
autosomal recessive
central and peripheral demyelination w/ ataxia

Front 33

hurler's syndrome

Back 33

alpha-l-iduronidase deficeincy
heparan sulfate, dermatan sulfate accumulate
autosomal recessive
developmental delay, gargoylism, airway obstruction, corneal clouding

Front 34

hunter's syndrome

Back 34

hunters aim for the X and see clearly
x-linked
iduronate sulfatase deficient
heperan sulfate, dermatan sulfate accumulate
mild hurlers + aggressive behavior and no corneal clouding

Front 35

acyl-coA dehydrogenase deficiency

Back 35

inability to mobilize fatty acids for energy (MCAD or LCAD)
high dicarboxylic acid levels
low ketones and low glucose (no energy to make glucose) during fasting

Front 36

carnitine deficiency

Back 36

inability to use light chain fatty acids, toxic accumulation
-can accumulate in muscle leading to fat globs