Biochem Flashcards
Megaloblastic anmie
AR
failure to thrive
orotic aciduria
cannot convert Orotic acid to UMP
Child
low WBC count
AR
multiple illnesses
adeonsine deaminase deficiency
cause of SCID
lack of lymphocytes
Mental retardation
self mutilation
hyperuricemia
Lesch-Nyhan syndrome
HGPRT absent
defect in purine salvage
Inhibitor of topoisomerase
fluroquinolones
via DNA gyrase
role of DNA pol III
only prokaryotes
proofreading and synthesis
role of DNA pol I
prokaryotes only
degrades RNA primer
synthesis
Mutated nucleotide excision repair
xeroderma pigmentosum
Mismatch repair mutation
hereditary nonpolyposis colorectal cancer
Mutation of nonhomologous end joining
ataxia telangiectasia
RNA pol roles
I-make rRNA
II-make mRNA
III-make tRNA
Inhibitor of RNA pol II
alpha-amanitin from death cap mushrooms
Tetracycline MOA
binds 30s RNAsubunit to prevent tRNA attachment
Aminoglycosides MOA
bind 30s RNA subunit to inhibit initiation complex
Chloramphenicol MOA
binds 50s RNA subunit to inhibit transferase
Macrolide MOA
bind 50s RNA subunit to prevent tRNA release
Child
Coarse facial features
clouded corneas
decrease joint movement
I-cell disease
failure of mannose-6-phosphate addition to lysosomes
Recurrent pyogenic infections
partial albinism
neuorpathy
Chediak-Higashi syndrome
LYST gene mutation
microtubule transport problem
Situs inversus
sterility
recurrent sinusitis
Kartagener’s syndrome
dynein arm defect, cilia immotililty
Stretchy skin
tendency to bleed
hypermobile joints
Ehlers-Danlos
abn type I or V collagen
problem with collagen cross-linking
Blue sclerae
hearing loss
dental problems
fractures
osteogenesis imperfecta
abn type I collagen
brittle bone disease
Progressive nephritis
deafness
ocular problems
Alport syndrome
abn type IV collagen
basement membrane of glomerulus affected
X linked
Tall thin male
tendency to bleed
Marfan’s syndrome
fibrillin-1 defect
arachnodactyly
cystic medial necrosis of aorta/aortic dissection
Mental retardation
hyperphagia/obesity
hypogonadism
Prader Willi syndrome
paternal not expressed on chromosome 15
Mental retardation
seizures
inappropriate laughter
ataxia
Angelman’s syndrome
maternal not expressed on chromosome 15
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
