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Flashcards in Midterm Clinicals Deck (43):

Gastric Proton Pump Inhibitors
-why needed
-decrease in what
-causes what

Ulcers, indigestion and heart burn require a decrease in gastric acid
Prescribed inhibitors (omezeropole)
Decrease in Hcl production causes hypochlorhydria which reduces absorption of nutrients, increased sensitivity to food poisoning and reduced gastric enzyme efficiency


Lead Poisoning
-side effect

Pb inhibits ALA dehydratase and ferrochelatase (which are involved in heme synthesis, coenzyme of hemoglobin)

Abdominal pain, sideroblastic anemia, irritability headaches, impaired nervous system development, encephalopathy

Pb higher affinity for EDTA
Pb-EDTA excreted in urine

Nephroxity possible side effect of EDTA


Deficiency in sphingomyelinase
-what happens

Niemann-Pick disease
- breaks down sphingomyelin normally

Causes accumulation of sphingomyelin
(In lysosomes of liver, pancreas, CNS and bone marrow)

Neurological manifestations: mental retardation, seizures, ataxia, spasticity

Cherry Red Spot


Defective floppase resulting in defective platelet mechanism & blood coagulation

Scott's syndrome
-phosphatidylserine (PS) can not be transferred to outer membrane


Increase in Free cholesterol due to chronic liver disease

Rough thorny projects

Spur cell Anemia
- type of hemolytic anemia

Chronic liver disease impairs metabolism of cholesterol by liver
increase free cholesterol

Elevated cholesterol decreases fluidity

Rigidity causes RBC to lyse in capillaries of spleen

Associated w/ beta lipoprotein anemia & advance alcoholic cirrhosis


Defect in uptake of dimeric AA cystine

-results in cystine crystals in kidneys

Patient presents w/ renal colic (abdominal pain in waves due to stones)

alkaline urine


Defective AA transfer (nonpolar or neutral)

Hartnup disease
(pellagra-like dermatosis)

Trp is found primarily in kidneys and intestines
(precursor for serotonin, melatonin, and niacin)

Manifests in infancy as failure to thrive, nystagmus (rapid eye movement), ataxia, tremor, photosensitivity

Triggered by sunlight, fever, drugs, stress poor nutriton

Fixed with high protein diet


Defective Cl- transport

cystic fibrosis
cl- build up in mucus blocks lungs, salivary glands, pancreas, intestines, and reproductive tract

thick mucous secretions

Fibrosis & cyst in pancreas
-insuffficent digestion enzymes
-failure to thrive
-diabetes II


CFTR transmembrane protein defective

cystic fibrosis
cl- build up in mucus blocks lungs, salivary glands, pancreas, intestines, and reproductive tract

Common Delta F508 but: needs correct drug to boost to surface and doorman to open channel so cl- can pass

Door-jamming out: cl- can reach channel surface but cannot pass


Deficiency in thiamine (B1)

alcoholism causes, decrease in adsorption

wenicke's: ataxia nystagmus,
korsakoff: psychosis, confabulation
dry beriberi: muscle wasting , partial paralysis
wet beriberi: cardiac failure, peripheral edema


Vit D disorders

bowed legs


Vit c disorders



deficency in cystathoionine beta-synthetase

deficiency in Met metabolism

buildup of homocysteine which that forms homocystINE (or deficiencies in coenzyme PLP)

four organs
eyes: ectopic lentil, high myopia
skeletal: limbs grow out of proportion w/ trunk
altered face
spinal osteoporsis
mental retardation


Deficiency branched chain alpha-kets acid dehydrogenase complex (BCKD)

Maple syrup urine disease

results in branched chain ketoaciduria
branched chain in urine gives smell

AA accumulate in blood (toxic) on brain fun

Treatment: diet limiting BCAA

Amish & JEwish


defect in phenylalanine hydroxylase PAH

Phenylketouria (PKU)

screened in newborn tests
musty oder in urine

disrupt neurotransmission & block AA transport in brain as well as myelin formation

Needs dietary Phe along w/ tyrosin


deficiency in tyrosine derivatives

1) Dopamine

2) Thyroid hormones
-T4: coupling 2 diiodotyrosine
-T3: monoiodtyrosine + diiodotyrosine

Hypothryodism: high TSH low T4
Hyperthyrodism: low TSH high T3/T4

3) Melanin


Transport& beta oxidation LCFA inhibited

Toxin from upripe fruit of west africa

vomiting, altered consciousness death

Metabolism of hypoglycin A generates products that conjugate with carnitine & coenzyme A

Increase glucose, decrease in gluconeogenesis --> hypoglycemia


defects in transport of VLCFA coA into peroxisomes

X-linked adrenoleukodystrophy (ALD)

increase acids in brain & adrenals of children
defect in ALD protein

Weak & stiff legs, impaired vision, behavioral problems


deficiency in phytanoyl coA hydrolyase

Adult refsum disease (ARD)
accumulation of phytonic acid

Peripheral polyneuropathy, cerebellar ataxia, retinis pigmentosa, hearing loss

phytonic acid is a branched chain FA from dairy, animals, fish

no beta oxidation, in perxosome 1 carbon removed


Mutations in genes for peroxides-proteins

Those are required for peroxisome assembly

Infantile Refsum Disease
-within zellweger spectrum

affected infants have decrease cerebral myelination, loss of hearing and vision


Blocks dihydrofolate reductase (DHFR)

-similar to folic acid (Competitive inhibitor)
-DHFR produces tetra hydrate folate

In purine synthesis


Mutation in HGPRT

Lesch-Nyhan syndrome
-defect in purine salvage pathway

Mutation in HGPRT -> over production of uric acid -> PRPP accumulates

(PRPP --> allosteric activation of glutamine: phosphoribosy pyrophosphate amidotransferase (committed step))

Hyperuricemia & hyperuricosuria --> gout

Urate kidney stones
Poor muscle control
Mental retardation
**Self mutation**

Purine biosynthesis is 200x normal


Used to heal chicken pox and herpes lesions


Viral TK (thymidine kinase) has greater affinity for acyclovir

converted to acyclovir-GMP-> acyclo-GTP

Terminates DNA replication


Sulfa drugs

competitive inhibitors of bacteria enzyme that incorporates PABA into folate

Humans get folate from diet

Disrupts DNA replication selectively in bacteria


ADA (adenosine deaminase) deficiency

SCID (Severe combined immunodeficiency)
bubble boys

High amounts of adenosine
-converted to dATP, high levels block synthesis of all other dNDPs and dNTPs

B and T cells defective

Impaired DNA synthesis and compromised Immune system


ADA overproduction

causes hemolytic anemia (Rare)
increased degradation of adenosine
Depletes adenine nucleotide pool
Triggers premature destruction of RBC


defect in APRT

renal lithiasis


Deficient PFK-1

Tarui Disease (GSD VII)
least common GSD
exercise induced muscle cramps and weakness
Hemolytic anemia
High bilirubin & anemia
Lack of recognition and diagnosis


Deficient G6P

inefficient release free glucose in blood stream
fasting hypoglycemia, lactic acidosis, hepatomegaly (due to build up of glycogen), retarded growth


Aldolase B deficiency

fructose intolerance
Aldolase B cleaves fructose 1-p into glycerhyde and DHAP

Increase fructose and fructose 1P

Liver damage, kidney disease, failure to thrive

Low tolerance for high fructose foods, hypophosphatena, hypoglycemia


reduced sensitivity to insulin

diabetes mellitus type 2

mutation in insulin receptor/ downstream signaling protein

down regulation in receptor triggered by elevated insulin causes degradation of receptors

Treatment: blood sugar control


deficiency in alpha 1-6 glucosidase

GSD III/ Cori disease

Deficiency in branching enzyme

Patients= glycerol molecule w/ large # short branches
Light hypoglycemia & hepatomegaly


Both alleles in INSR defective

Rabson-Mendenhall syndrome
(cousins mating)

-growth retardation, dysmorphism, lack of fat, enlarged gentallia, dysplastic dentition, coarse facial hair

Hyperglycemia, ketoacidosis, hyperinsulinemia


Mutation in INSR (nonsense mutation -> frame shift -> single missence)

Donohue syndrome (leprechaunish)

Marked: insulin resistance, severe growth retardation, dysmorphic features (protuberant and low set ears, flaring nostrils, thick lips))

More severe the RMS

Spontaneous abortion/early death


Mutationsin liver isoform of glycogen phosphorylase

GSD VI/ Hers disease

Inactivated by free glucose (no effect w/ AMP)


Deficiency in glycogen synthase

decrease in synthase, glucose not stored as glycogen
Patient dependent of dietary glucose

Hypoglycmia when fasting (Sleep)
muscle cramping


Mutation in muscle isoform of glycogen phosphorylase

RL step
GSD V/ McArdle disease

allosterically activated by AMP ca2= g-actin
normally cleaves Glp from glycogen

unable to supply muscles, fatigue, muscle cramping, polyoglobinuria

post exercise: red urine
2nd wind phenemina


Deficiency in glycosyl 4:6 transferase

responsible for branching

GSD IV/ anderson disease

Patients have long chain glycogen w/ fewer branches

Hepatosplenomegaly, cirrhosis, death


deficient phosphatase

Neonatal lactic acidosis

Constantly phosphorylated PDC (inactive)

Glucose -> lactate (no actyl coa)

Patients don't live past childhood

CNS affected


deficiency in pyruvate carboxylase

can't revert pyruvate to oxaloacetate

pyruvate goes to lactic acid then

Seizures, muscle weakness, ataxia


Rat poison

fluoroacetate inhibits TCA
reacts w/ CoA to form fluroactyl coA instead
condense to fluorite w/ competes w/ citrate

inhibits aconitase, citrate accumulates

also inhibits PFK-1, no glycolysis


deficiency in fumarase

neurologic impairment


first 2 years of life:
dystonia: abnormal muscle contraction involunatary twisting
-increase in urinary excretion of fumarate, succinate, alpha-kets glut, citrate
-mutation in fumerase gene contains Q319E



disorder in FA-beta oxidation

MCAD deficiency
can't breakdown MCFAs to acetyl-coe
hypoglycemia/ sudden death
Treat w/ diet
-no fasting, no LCFA