Biochem Flashcards by Grant Oakley

Megaloblastic anmie
AR
failure to thrive

orotic aciduria

cannot convert Orotic acid to UMP

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Child
low WBC count
AR
multiple illnesses

adeonsine deaminase deficiency
cause of SCID
lack of lymphocytes

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Mental retardation
self mutilation
hyperuricemia

Lesch-Nyhan syndrome
HGPRT absent
defect in purine salvage

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Inhibitor of topoisomerase

fluroquinolones

via DNA gyrase

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role of DNA pol III

only prokaryotes

proofreading and synthesis

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role of DNA pol I

prokaryotes only
degrades RNA primer
synthesis

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Mutated nucleotide excision repair

xeroderma pigmentosum

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Mismatch repair mutation

hereditary nonpolyposis colorectal cancer

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Mutation of nonhomologous end joining

ataxia telangiectasia

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RNA pol roles

I-make rRNA
II-make mRNA
III-make tRNA

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Inhibitor of RNA pol II

alpha-amanitin from death cap mushrooms

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Tetracycline MOA

binds 30s RNAsubunit to prevent tRNA attachment

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Aminoglycosides MOA

bind 30s RNA subunit to inhibit initiation complex

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Chloramphenicol MOA

binds 50s RNA subunit to inhibit transferase

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Macrolide MOA

bind 50s RNA subunit to prevent tRNA release

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Child
Coarse facial features
clouded corneas
decrease joint movement

I-cell disease

failure of mannose-6-phosphate addition to lysosomes

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Recurrent pyogenic infections
partial albinism
neuorpathy

Chediak-Higashi syndrome
LYST gene mutation
microtubule transport problem

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Situs inversus
sterility
recurrent sinusitis

Kartagener’s syndrome

dynein arm defect, cilia immotililty

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Stretchy skin
tendency to bleed
hypermobile joints

Ehlers-Danlos
abn type I or V collagen
problem with collagen cross-linking

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Blue sclerae
hearing loss
dental problems
fractures

osteogenesis imperfecta
abn type I collagen
brittle bone disease

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Progressive nephritis
deafness
ocular problems

Alport syndrome
abn type IV collagen
basement membrane of glomerulus affected
X linked

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Tall thin male

tendency to bleed

Marfan’s syndrome
fibrillin-1 defect
arachnodactyly
cystic medial necrosis of aorta/aortic dissection

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Mental retardation
hyperphagia/obesity
hypogonadism

Prader Willi syndrome

paternal not expressed on chromosome 15

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Mental retardation
seizures
inappropriate laughter
ataxia

Angelman’s syndrome

maternal not expressed on chromosome 15

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Dwarfism normal trunk lg head

achondroplasia | defect of fibroblast growth factor 3 (FGF3)

multiple lg cysts on the kidney flank pain hematuria/HTN

ADPKD | mutation of PDK1 on chromosome 16

Recurrent epistaxis telangiectasia skin discolorations

Osler-Weber Rendu syndrome hereditary hemorrhagic telangiectasia arteriovenous malformations

Caudate atrophy progressive dementia family hx

Huntington's disease decreased GABA and ACh in brain CAG repeat on chromosome 4

Pigmented iris ocular problems cafe-au-lait spots

Neurofibromatosis type 1/von Recklinghausen disease Lisch nodules of iris long arm of chromosome 17 defect

Juvenile cataracts | hearing loss

Neurofibromatosis type 2 bilateral acoustic schwannomas NF2 gene on chromosome 22

Ash leaf spots (hypopigmented) seizures adenoma sebaceum

Tuberous sclerosis renal angiomyolipomas/cardiac rhabdomyomas retinal hamartoma

hemangioblastomas of retina, cerebellum and medulla | bilateral renal cell carcinomas

``` Von Hippel-Lindau disease VHL gene (tumor suppressor) on chromosome 3 ```

Male with infertility pancreatitis chronic bronchitis tx with N-acetylcysteine

``` Cystic fibrosis AR defect in CFTR on chromosome 7 deletion of Phe 508 lung/pancreas mucus plugs recurrent infections (pseudomonas/s. aureus) ```

Male age 3 Pseudohypertrophy of calves weakness of pelvic muscles tripods to get up

Duchenne's muscular dystrophy deletion of dystrophin gene X linked

Mental retardation large testes autism long face

Fragile X syndrome X linked defect of FMR1 gene expression Mitral valve prolapse seen CGG trinucleotide repeat

GAA trinucleotide repeat

Friedreich's ataxia

CAG trinucleotide repeat

Huntington's disease

CTG trinucleotide repeat

Myotonic dystrophy

CGG trinucleotide repeat

Fragile X syndrome

Down's syndrome asscs

Trisomy 21 Atrial septal defect increased Alzheimer's/ALL at early age simian crease

Small mouth low ears mental retardation

Edward's syndrome trisomy 18 death early congenital heart disease

Small eyes midline structures merged polydactyly

``` Patau's syndrome trisomy 13 holoproencephaly small head/eyes death within a year ```

Microcephaly high pitched crying/mewing VSD

Cri du chat syndrome | chromosome 5 microdeletion

Elfin facies hypercalcemia extreme friendliness CV problems

Williams syndrome microdeletion of chromosome 7 deleted elastin gene

Confusion,memory loss ataxia loss of fields of vision

Wernicke-Korsakoff thiamine deficiency (B1) confabulation of stories medial dorsal nucleus of thalamus and mammillary bodies damaged

Diarrhea dementia dermatitis

Niacin (B3) defiency | pellegra

neurogenic defects in infancy | lactic acidosis

Pyruvate dehydrogenase complex deficiency | mutation of X linked gene for E1-alpha of PDC

``` Increased infections (s. aureus/aspergillus) defect in NADPH oxidase ```

Chronic granulomatous disease | due to catalase (+) bugs

Hemolytic anemia | Heinz bodies/bite cells seen in RBC's

G6PD deficiency NADPH cannot reduce glutathione in RBC's oxidative damage done

Infantile cataracts high serum galactose AR

Galactokinase deficiency | galactitol causes cataracts

Child jaundice/failure to thrive hepatomegaly infantile cataracts

Classic galactosemia G1-UDP transferase absent accumulation of toxic substances

``` Blurred vision asterixis slurring of speech vomiting liver disease ```

hyperammonemia causes cerebral edema from excess NH4+, depletes alpha-ketoglutarate TCA cycle inhibited

Musty odor growth retardation fair skin seizures

phenylketonuria decreased phenylalanine hydroxylase AR excess PK in urine

Albinism cause

defective tyrosine transporters or tyrosinase/lack of neural crest cell migration lack of melanin increase skin cancer

Osteoporosis lens subluxation atherosclerosis

homocystinuria | AR

CNS defects | urine smells like maple syrup

Maple syrup urine disease | branched chain AA's cannot be degraded

``` Pellegra sx (diarrhea/dementia/dermatitis) not B3 deficiency ```

Hartnup disease defective neutral AA transporter tryptophan excretion in urine

Hypoglycemia with fasting hepatomegaly excess liver glycogen

Von Gierke's disease Glc-6-phosphatase deficiency AR

Cardiomegaly | early death

Pompe's disease | Lysosomal alpha 1,4-glucosidase deficiency

increased glycogen in muscle | painful muscle cramps with strenous exercise

McArdle's disease | skeletal m. glycogen phosphorlyase deficiency

Peripheral neuropathy angiokeratoma CV/renal disease

Fabry's disease alpha-galactosidease A defect ceramide/trihexoside

Hepatosplenomegaly necrosis of femur crumpled tissue paper cells

Gaucher's disease | glucocerebrosidase defect

neurodegeneration cherry red macula hepatosplenomegaly

Niemann-Pick disease | sphingomyelinase defect

neurodegeneration lysosomes with skin skin no hepatosplenomegaly cherry red macula

Tay-Sachs disease hexosaminidase A defect GM2 ganglioside

Peripheral neuropathy optic atrophy developmental delay

Krabbe's disease | galactocerebrosidase

central/peripheral demyelination ataxia dementia

metachromatic leukodystrophy | arylsulfatase A defect

Gargoylism corneal clouding developmental delay

Hurler's syndrome alpha-L-iduronidase defect AR

Gargoylism | aggressive behavior

Hunter's syndrome iduronate sulfatase defect X linked

Pancreatitis hepatosplenomegaly xanthomas increased TG/cholesterol in blood

hyperchylomicronemia AR lipoprotein lipase defect or apoCII defect

Atherosclerosis at young age xanthoma of Achilles corneal arcus increased LDL/cholesterol in blood

familial hypercholesterolemia AD no LDL receptors

Pancreatitis increased VLDL in blood increased VLDL and TG in blood

hypertriglyceridemia AD hepatic overproduction of VLDL

Failure to thrive steatorrhea ataxia acanthocytosis (spiked RBC's)

abetalipoproteinemia MTP gene mutation decreased B48 and B100 decreased chylomicron and VLDL production

Pancreatitis increased VLDL in blood increased VLDL and TG in blood

hypertriglyceridemia AD hepatic overproduction of VLDL

Atherosclerosis at young age xanthoma of Achilles corneal arcus increased LDL/cholesterol in blood

familial hypercholesterolemia AD no LDL receptors

Pancreatitis hepatosplenomegaly xanthomas increased TG/cholesterol in blood

hyperchylomicronemia AR lipoprotein lipase defect or apoCII defect

Gargoylism | aggressive behavior

Hunter's syndrome iduronate sulfatase defect X linked

Gargoylism corneal clouding developmental delay

Hurler's syndrome alpha-L-iduronidase defect AR

Biochem Flashcards

(77 cards)