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Step 1 - Biochem diagrams

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cwsmith1124's version from 2015-12-22 19:52

Overview cycles

A
Question Answer
1Galactokinase (mild galactosemia)
2Galactose-1-phosphate uridyltransferase (severe galactosemia)
3Hexokinase/glucokinase (in panc)
4Glucose-6-phosphatase (von Gierkes's)
5Glucose-6-phosphate dehydrogenase (G6PD) -- HMP shunt produces 2 NADPH, no ATP used. deficiency makes heinz bodies and other probs
6Transketolase (HMP shunt, Thiamine is essential co-factor (and Calcium). B1 def leads to no NADPH production)
7Phosphofructokinase-1 (RLS of glycolosis, requires ATP, inhibited by citrate)
8Fructose-1,6-bisphosphatase
9Fructokinase (essential fructosuria)
10Aldolase B (fructose intolerance)
11Pyruvate kinase
12Pyruvate dehydrogenase
13HMG -CoA reductase (RLS of mevalonate pathwa, ie. cholesterol synthesis pathway)
14Pyruvate carboxylase
15PEP carboxylase
16Citrate synthase
17Isocitrate dehydrogenase
18alpha-ketoglutarate dehydrogenase
19Ornithine transcarbamoylase (OTC deficiency = hyperammonemia, glutimate and alanine levels elevated, carbamoyl phosphate is part of de novo purine synth (UMP) so it backs up and you get Orotic Aciduria)
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A: Glycogen Synthase: RLS of Glycogen synthesis, req branching enzyme

Inheritence

Question Answer
Autosomal recessive
Mitochondrial inheritence
Autosomal dominant
X inked recessive
X linked dominant
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Purine salvage

EAFHDGBC
LetterAnswer
AHGPRT+PRPP - deficiency(HGPRT)→Lesch-Nyhan -excess uric acid→ retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis
BXanthine
CXanthine Oxidase - deficiency not that big a deal (may lead to kidney trouble)
DHypoxanthine
EHGPRT+ PRPP - Deficiency = lesch-nyhan
FInosine
GAdenosine deaminase (ADA) - deficiency can lead to SCID b/c of prevention of DNA synthesis/accumulation of adenosine
HAPRT(Adenine phosphoribosyltransferase) - deficiency leads to accumulation of insoluble purine & nephrolithiasis
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Purine and pyrimadine synthesis

AIEBCFGHDJLKMNO

 

Question Answer
ARibose 5-P
B6-mercaptopurine - blocks de novo purine synthesis
Crequires glycine, aspartate, glutamine and THF
DIMP
EOrotic acid
FUMP
GRibonucleotide reductase
HHydroxyurea
IRequires aspartate
JCTP
K5- Fluorouracil
LThymidylate synthase
MdTMP
NDihydrofolate reductase
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O :Methotrexate (and Trimethoprim in bacteria)

Gene expression

DCBAEGFH

 

Question Answer
A5'
BEnhancer
CTranscription initiation site
DCoding region
E3'
FIntron
GExon
HPromotor
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DNA rep

BAFIJKEGCHD

 

Question Answer
A Leading strand
BDNA polymerase III
CHelicase
DSingle strand binding proteins
EReplication fork
FDNA polymerase III
GPrimase
HRNA primer
IOkazaki fragment
JDNA ligase
KLagging strand
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Resp burst

Question Answer
1NADPH oxidase (deficiency = chronic granulomatous disease)
2Superoxide dismutase
3Myeloperoxidase
4Catalase/glutathione peroxidase
5Glutathione reductase
6Glucose-6-phosphate dehydrogenase (G6PD)
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Lysosomal diseases

ABFDCE
Question Answer
ATay-Sachs - def in Hexosaminidase A, accum of GM2 ganglioside (neurodegeneration/MR, CHERRY RED MACULA, lysosomes with onion skin, NO HEPATOSPLENOMEG), AR
BMetachromatic leukodystrophy - def in Arylsulfatase A, accum of Cerebroside sulfate (central and periph demyelination with ataxia and dementia), AR
CKrabbe's - def in Galactocerebrosidease, accum of galactocerebroside, (peripheral neuropathy, MR, optic atrophy, globoid cells), AR
DGaucher's - def in B-glucocerebrosidase, accum of sphingolipid glucocerebroside (hepatosplenomeg, accum in lysosomes of macrophages in bone marrow, liver, spleen), AR
ENiemann-Pick - def in sphingomyelinase, accum of sphingomyelin (accum in phagocytes forming "foamy histiocytes" that accum in liver, spleen = HEPATOSPLENOMEG, CHERRY RED MACULA, skin, + sphingomyelin deposits in CNS leading to neurologic degeneration/MR), AR
FFabry's - def in alpha-galactosidase A, accum of Ceramide trihexoside (burning pain/neuropathy, anhydrosis, angiokeratomas, renal fail, HTN), XR
Hurler's synd (def, accum, sx, inheritance)def in alpha-L-iduronidase, accum of heparan sulfate and dermatan sulfate (causes MR, gargoylism, airway obstruction, corneal clouding) AR.
Hunter's synd (def, accum, sx, inheritance)def in Iduronate sulfatase, accum of heparan and dermatan sulfate (same as Hurlers so same sx as Hurler's except milder, NO CORNEAL deposits but AGGRESSIVE behavior) XR
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FA digestion

BACIEGHFD
Question Answer
AChylomicrons
BLPL
CLPL, HL
DLDL
ELPL/HL
FIDL
GLPL
HVLDL
IBile Acids
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FA metab

AEFBGCHDIJ
Question Answer
AFatty Acid synthesis (palmitate (16C FA)
BCO2 (biotin)
CAcetyl-CoA
DAcetyl-CoA
EFatty Acid
FCoA
GFatty Acid CoA synthetase
HMalonyl CoA
IBeta-oxidation (breakdown to Acetyl-CoA groups)
JKetone bodies, TCA cycle
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