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55 Cards in this Set
- Front
- Back
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night blindness, dry skin
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Vitamin A deficiency
Vitamin A is in visual pigments |
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polyneuritis, symmetrical muscle wasting
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Dry beriberi of Thiamine deficiency
Thiamine is needed for decarboyxlation of alpha ketoacids It's a cofactor in the HMP shunt t |
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high output cardiac failure (dilated cardiomyopathy), edema
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Wet beriberi of Thiamine deficiency
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confusion
ophtlamoplegia ataxia |
Wernicke's encephalopathy from Thiamine deficiency
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memory loss
confabulation personality change |
Korsakoff's from progression of Wernicke's due to Thiamine deficiency
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angular stomatitis (inflammation of oral mucous linings)
Cheilosis (inflammation of lips) Corneal vascularization (The 2 C'S) |
B2 (riboflavin) deficiency
riboflavin is a cofactor in redox (Fad and Fmn are derived from riboFlavin) (B2 = 2ATP) |
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Diarrhea
Dermatitis Dementia and beefy glossitis (The three Ds) |
B3 (niacin) deficiency = Pellagra
Nad is derived from Niacin (B3=3ATP) |
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Dermatitis
enteritis alopecia adrenal insufficiency |
B5 (pantothenate) deficiency
(Pathothen-A is Co-A) B5 is also a component of fatty acid synthase |
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confulsions
hyperirritability peripheral neuropathy |
B6 (pyridoxine) deficiency
cofactor in transamination (ALT, AST), decarboxylation, glycogen phosphorylase and heme synthesis |
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macrocytic, megaloblastic anemia
optic neuropathy subacute combined degeneration paresthesia glossitis |
B12 deficiency
B12 converts homocysteine and N-methyl THF to methionine and THF converts methamylmalonyl-CoA to Succinyl-CoA |
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macrocytic, megaloblastic anemia
no neurologic symptoms |
Folic acid deficiency
THF is a methylator needed for synthesis of DNA/RNA |
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dermatitis
enteritis |
Biotin deficiency due to antibiotic use or ingestion of raw eggs
Biotin is a cofactor for carboxylations - pyruvate to oxaloacetate - acetyl co-A to malonyl-CoA - Proprionyl-CoA to methylmalonyl CoA |
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swollen gums
bruising anemia poor would healing |
Vitamin C
Vitamin C is needed to make collagen, facilitate iron absorption, and conversion of dopamine to NE |
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bending bones
soft bones tetany |
Vitamin D deficiency
Vit D increases intestinal absorption of Ca and PO4 |
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hypercalcemia
loss of appetite stupor |
Vitamin D excess (as seen in Sarcoidosis, when epithelioid macrophages convert vitamin D into its active form)
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increased fragility of erythrocytes
neurodysfunction |
Vitamin E
(E is for Erythrocytes by being an antEoxidant) |
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Neonatal hemorrhage with increased PT and PTT
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Vitamin k deficiency (often by antibiotic use)
K is for Koagulation II, VII, IX and X and C and S are K dependent K catalyzes gamma carboxylation of glutamic acid residues |
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delayed wound healing
hypogonadism decreased adult hair |
Zinc deficiency
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small child with swollen belly
skin lesions edema liver malfunction |
Kwashiorkor form protein deficient MEAL
Malnutrition Edema Anemia Liver (fatty) |
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tissue and muscle wasting
loss of subcutaneous fat variable edema |
Marasmus
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hyperextensible skin
tendency to bleed (easy bruising) hypermobile joints associated with Berry Aneurysms |
Ehlers-Danlos
Type III (and I) colagen faulty (and other collagen) |
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multiple fractures from minimal trauma
Blue sclerae hearing loss dental imperfections |
Osteogenesis imperfecta
Several kinds most common is AD and affects Collagen 1 |
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hemolytic anemia
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glycolytic enzyme deficiency
The deficiency decreases the activity of NaKATPase, leading to RBC swelling and lysis. (RBCs depend solely on glycolysis) |
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Vomiting
Rice water stools Garlic breath |
Arsenic,
via inhibiting lipoic acid that is one of 5 required cofactors in the pyruvte dehydrogenase complex that is necessary to run the TCA cycle |
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lactic acidosis
neurologic defects |
Pyruvate dehydrogenase deficiency
lactic acidosis is due to a backup of pyruvate and alanine congenital or acquired, esp by alcoholics thiamine deficiency |
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helolytic anemia
Heinz bodies increased resistance to malaria |
G6PD deficiency
rate limiting enzyme in HMP shunt that yeilds NADPH which detoxifies free radicals. Defends RBCs against oxidizing agents (like fava beans sulfonamides, primaquine) and antituberculosis drugs |
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hypoglycemia
jaundice cirrhosis vomiting |
Fructose intolerance because of hereditary deficiency of aldolase B (recessive).
Accumulation of fructose-1-phosphate reduces available phosphoate, which inhibits glycogenolysis and gluconeogenesis |
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fructose in blood and urine
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Essential fructosuria, an asymptomatic defect in fructokinase (fructose can't get into cells)
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cataracts
hepatosplenomegaly mental retardation |
Galactosemia
Absence of G1PU Autosomal recessive Toxic substances like galactitol build up. |
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galactosemia
galactosuria |
Galactokinase deficiency
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bloating
cramps osmotic diarrhea |
lactase defiency in the brush border
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mental retardation
growth retardation fair skin eczema musty body odor |
Phenylketonuria
AD Caused by decreased phenylalanine hydroxylase or THB cofactor so that tyrosine can't be produced from phenylalanine AND phenylalanine builds up |
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Urine turns black on standing
dark connective tissue possibly debilitating arthralgias |
Alkaptonuria (ochronosis)
deficiency in homogentisic acid oxidase in the degradative pathway of tyrosine |
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albinism
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Either:
AR deficiency in tyrosinase so that melanin can't be made from tyrosine OR defective tyrosine transporters OR lack of migration of neural crest cells |
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mental retardation
osteoporosis tall stature kyphosis lens subluxation atherosclerosis (stroke and MI) |
Homocystinuria (3 forms, all AR)
1) deficiency in cystathionin synthase) 2) decreased affinity of cystathionine synthase fo pyridoxal phosphate 3) homocysteine methyltransferase deficiency |
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staghorn caliculi
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Cystinuria
Common defect of renal tubular AA transporter for cystein, ornithine, lysine and arginine in proximal tubule |
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severe CNS defets
mental retardation Urine smells like maple syrup |
Maple Syrup urine disease
Blocked degradation of branched amino acids/alpha-ketoacids in the blood (Ile, Leu, Val -- I Love Vermont) because of decreased alpha-ketoacid dehydrogenase |
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coarse facial features
clouded corneas restricted joint movement high plasma levels of lysosomal enzymes often fatal in childhood |
I-Cell disease
failure of addition of mannose-6-phosphate to lysosome proteins, so that enzymes are secreted outside of the cell |
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decreased phagocytosis
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Chediak-Higashi
microtubule polymerization defect |
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male and female infertility
bronchiectasis recurrent sinusitis |
Kartagener's syndrome
immotile cilia due to a dynein arm defect |
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severe immunodeficiency in a kid
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SCID caused by ADA (adenosine deaminase deficiency)
Without AD, DNA sythesis and thus lymphocytes can't be synthesized "An ADD for John Travolta playing the boy in the plastic bubble" |
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retardation
self-mutilationaggression hyperuricemia gout choreoathetosis |
Lesch-Nyhan syndrome
Absence of HGPRT ("He's Got Purine Recovery Trouble") which means that that uric acid builds up and nucleic acids don't get made |
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severe fasting hypoglycemia
much increased glycogen in liver increased blood lactate hepatomegaly |
Von Gierke's disease (Type I GSD)
G6Pdeficiency |
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cardiomegaly
systemic findings early death |
Pompe's disease (Type II GSD)
lysosomal alpha-1,4 glucosidase (acid maltase) deficiency Pompe's trashes the Pump (heart, liver, muscle) |
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normal blood lactate
gluconeogenesis in tact but accumulation of glycogen in cells |
Cori's diseae (Type III GSD)
a mild GSD failure of debranching enzyme alpha-1,6-glucosidase |
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painful muscle cramps
myoglobinuria with strenuous exercise |
McArdle's disease (Type V GSD)
"McArdle's - Muscle" skeletal muscle glycogen phosphorylase is missing, so that although there's glycogen in the muscle it can't be broken down, which leads to the cramps |
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increased resistance to malaria
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G6PD
thalassemia sickle cell |
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peripheral neuropathy of hands/feet
angiokeratomas cardiovascular/renal disease |
Fabry's disease
XR alpha-galactosidase A missing ceramide trihexoside accumulates |
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hepatosplenomegaly
aseptic necrosis of femur bone crises ___ cells (name of disorder) |
Gaucher's disease
AR deficient beta-glucocerebrosidase accumulates glucocerebroside |
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progressive neurodegeneration
hepatosplenomegaly cherry red spot |
Niemann-Pick disease
AR Sphingomyelinase deficient ("Pick your nose with your sphinger") Sphingomyelin builds up |
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progressive neurodegeneration
developmental delay cherry red spot lysosomes with onion skin |
Tay Sachs
AR hexosaminidase A deficient ("Hex on the Jews") gm2 ganglioside builds up |
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peripheral neuropathy
developmental delay optic atrophy globoid cells |
Krabbe's disease
AR galactocerebrosidease deficiency Galactocerebroside builds up |
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central and peripheral demyelination
ataxia dementia |
Metachromatic leukodystrophy
AR Arylsulfatase A deficient Cerebrosidease sulfate builds up |
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developmental delay
gargoylism (coarsened facial features) airway obstruction corneal clouding hepatosplenomegaly |
Hurler's syndrome (a mucopolysacharidose)
AR alpha-L-iduronidase deficiency heparan sulfate and dermatan sulfate build up |
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mild developmental delay
mild gargoylism mild airway obstruction mild hepatosplenomegaly aggressive behavior |
Hunter's syndrome
XR Iduronate sulfatase deficiency heparan sulfate and dermatan sulfate build up |
