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115 Cards in this Set

  • Front
  • Back
adenosine deaminase defic causes
describe mech of SCID
B and T cell defic (bubble boy), ATP>>GTP, causing decreased lymph production
(can be due to Adenosine Deaminase defic)
what type of disorder is lesch nyhan
purine salvage (along with adenosine deaminiase defic/SCID)
how does lesch nyhan present
gout, MR, self mutilation
what enzyme abnormal in lesch nyhan
HGPRTase causing increased uric acid
Gly Storage I dz aka
von Gierke
Gly Storage II which enzyme is abnormal
lyso alpha 1,4 glucosidase (called Pompe's)
Gly Storage III/Cori which enzyme abnormal
alpha 1,6 glucosidase (debranching)
Name all glycogen storage dz names and acronym
von Gierke, Pompe, Cori, McArdle (very poor carb metabolism)
enzyme defic in mcArdles
skel mscl gly phophorylase
alpha ketoacid-dehydrogenase defic in what dz
maple syrup urine
alpha ketoacid-dehydrogenase does what
used in degradation of branched aa
Name dz and enzyme defic: weak mscl, big heart, bad liver
Pompe's (Gly II, defic of lyso alpha 1,4 glucosidase
hypoglycemia, hi glycogen in liver
von Gierke (Gly I, defic of glu 6 phosphate)
mechanism of von Gierke
glu6P enzyme doesn't work so glycogen all stuck in liver
clinical presentation/signs/symptoms McArdles
"PCM poor carb metabolism" Painful cramps myoglobinuria with exercise
clinical presentation/signs/symptoms Hurlers
severe MR, corneal clouding, skel/gargoylism, HS, respir infxn/obstruction,
MPS IV clinical presentation
skel short, pectus carvinatum, atlantoaxial instability (my pt)
dermatan and heparan sulfate defic causes
chondroitin6sulfate problem seen in what dz
MPS IV (Morquio)
general problem in MPS dz
lysosomal storage dz in which defic enzymes to breakdown GAGs
Gly Storage II dz aka
Gly Storage III/Cori which enzyme abnormal
alpha 1,6 glucosidase (debranching)
alpha ketoacid-dehydrogenase defic presents clinically, and its natural history/progression
maple syrup urine, CNS defect, MR, death
Hunter clinical presentation, course
mildler form of Hurler, w/o corneal clouding, presents later w slower progression, but increased aggression
defic in fabry's
alpha galactosidaseA
accumulation in fabry's
ceramide trihexoside
clinical presentation fabry's
peripheral neuro hands/feet, CVS dz, renal F, angiokeratomas (red/purple skin),
can present just w RF
defic in Krabbe
b-galactosidase resulting in accum galactocerebroside
accumulation in krabbe
clinical presentation krabbe, histol
peripheral neuro w spasticity, MR, optic atrophy
histol: globoid cells in degen white matter of brain
defic in nieman pick
accum in Nieman Pick
clinical present Nieman Pick--key difft feature
HS, progressive neurodegen, cherry spot
HS key to difft from Tay Sach
prognosis Nieman Pick
die by 3
clinical presentation Tay Sach
progress neurodeg, cherry red spot, lysozymes w onion skin
lysozymes with onion skin
Tay Sach
defic in Tay Sach
accum in Tay Sach
GM2 ganglioside
arylsulfatase abnormal in what dz
Metachrom Leuko Dys
defic in Metachrom Leuko Dys
accum in MLD, and where
sulfatide (in brain, kidney, liver, peripheral n)
clinical MLD
central and peripheral demyelin w ataxia, dementia
defic in gauchers
accum in gauchers
clinical gaucher
HS, aseptic necrosis femur, bone crises, gaucher cells
histol of gaucher cells
macrophage with crinkled enlarged cytoplasm.
defic in Hurler
a-L iduronidase
defic in Hunter
iduronate sulfatase
defic in fruc intolerance
aldolase B
defic in esstl fructosemia
defic in galactosemia
gal 1P uridyl trx
general pathophysio of problem in fruc intolerance
Fru 1P decreases available phopshate, inhiibiting glycogenolysis and gluconeogenesis
problem in galactosemia, clinical presentation
accum of toxins (galacitol) (causing cataracts, HS, MR, +/- jaundice, vomit)
clinical present of fruc intolerance
hypogly, jaundice, cirrhosis
galactokinase defic presents
galactosemia and uria
which sugar disorders treatable by diet
galactosomia, no galactose and no lactose
problem in G6PD defic
decr NADPH in RBC to keep glutathione reduced, leads to hemo anemia with oxidative stress
triggers of hemo anemia in G6PD defic
fava, sulfonamides, primaquine (latent form malaria), TB Rx
pathognemonic finding of G6PD (PBS)
Heinz bodies (ppt of Hb in RBC)
problem in CGD
PMN can't phago (no H2O2)
CGD present
skin, LN, lung infxn with opp bac, esp Staph, E Coli, Aspergillus--in boys
LAD clinically presents
gingiva and skin infection
problem in LAD
LAD1=no b2 integrins, LFA
LAD2=no sialyl lewis x
present of Chediak Higashi
Staph and strep infxns
problem in Chediak Higashi
defect phago (microtubules and lysosomes empty)
problem in PKU
accum of phenylalanine, Tyr becomes essential
defici in PKU
low THF, low phenyl. hydroxylase
PKU present
MR, fair skin, exczema, musty odor
defic in alkaptonuria
homogentisic acid oxidase (degrades tyr)
clinical present alkaptonuria
urine dark on standing, connective tissue dark, ***arthralgia
tyrosinase defic results in what
problem in albinism
no tyrosinase, can't make melanin
homocystinuria defic in
cytathionine synthase or meth synthase
clinical present of homocystinuria (besides UA)
(UA has homocys), MR, osteo, lens dislocate
defic in cystinuria
defic tubular aa transporter Cys, Orn, Lys, Arg
clinical present of cystinuria
kidney stones (tx acetazolamide which alkalinizes the urine)
how does sel IgA defic present
GI, respir infxns, milk allergy, transfusion rxn
how common is sel IgA and what is it assoc w?
common, assoc with CVID, autoimmune and allergy
labs on selIgA, tx?
labs: only IgA defic
tx: IV Ig
clinical presentation CVID
PNA, bronchitis, sinusitis, GI in 15-35yo
labs in CVID
immuniz gives low IgM, no IgG
overall low Ig levels
CVID assoc w
autoimmune, cancer, selIgA
clinical present Hyper IgM
pyogenic infxns, young male
problem in HyperIgM
problem CD40L so no IgG switch
labs in HyperIgM
no IgG, IgA,
IgM very high
Bruton's problem?
arrest in preB cells bc no tyr kinase
clinical present Brutons
6mo male, with PNA, sinusitis, otitis
labs Brutons
no Ig, no B cells
Bruton's also called
X linked gamma globulin
tx for Brutons
NO LIVE vaccines
Wiskott Aldrich clinically present
pathophysio of the problem
lab studies
WIPE Wiskott, Infxns, thrombocytopenic Purpuea, Eczema

can't mount IgM ag encapsulated org
hi IgA, normal IgE, low IgM
Wiskott Aldrich problem
no IgM--unable to mount IgM response to encapsulated orgs
labs: hi IgA, normal IgE, low IgM
Ataxia telangiectasia clinical present
ataxia, spider angiomas
Problem in Ataxia Telangiectasia, labs
problem: DNA repair in response to xray
labs: low IgA
difft Ig defic
all Ig=Brutons
IgA=sel IgA or atxia telang
hyperIgM (no CD40)
IgM=Wiskott Aldrich
ceramide formed from
sphingosine plus fa
(where sphingosine=serine + palmitate)
gangliosides made up of
ceramide + oligosacc + sialic
cerebrosides made up of
ceramide + glucose/galactose
sphingomyelin made up of
ceramide + phosphoryl Cl
ceramide is used in...
gangliosides (add oligosacc and sialic)
cerebrosides (add glu/galactose)
sphingomyelin (add phosphoryl chol)
Gardners syndrome
SOD (sebaceous cysts, osteomas, desmoid), + polyps SI and colon
(v FAP polyps in rectum and colon)
Peutz Jegher
polyps (hamartomas) anywhere GI
buccal pigment, increase likely extra-GI malignancy
Plummer Vinson
eso web, Fe defic, dysphagia, spoon nails, atrophic oral, RISK SCC
Turcot syndrome
colon polyps and CNS tumor
von Hippel Lindau
cystic and Cb hemangioblastomas, angiomalform retina, ??pheo (CCAP)
**50% RCC**
difft polyps in difft parts GI
anywhere=Peutz Jegher
cafe au lait
iris hamartomas (Lisch)
axillary freckle
neurofibroma (8% malig)
bilateral acoustic neuroma
note: 50% new mutation
Parathyroid, Pancreas, pituitary
medullary thyroid (bilat), pheo (bilat), parathyroid hyperplasia
medullary thyroid bilat, pheo bilat, muccosal neuromas, marfanoid, constipation (NO PTH)
Sipples dz aka
MEN IIa: medullary thyroid (bilat), pheo (bilat), parathyroid hyperplasia
Osler Rendu Weber
GI telangiectasia, AV malform
Waterhouse Friedrichson
adrenal insuff bc hemorrhage bc meningo