Title: Big Ol' Bonewizardry Deck / Hex Clues / Biochem
Tags: hex-clues hex-clues::biochem

Q: What has t(15,17)?
A: AML M3 (APML) 🧬
t(15;17) 🔗
ATRA 🎯 forces blasts to grow up 💀

Q: What are the Purines?
A: Adenine + Guanine 🧬
double-ring 🔬
Pure As Gold 🥇

Q: What cancer has Ras?
A: Colon cancer 💥
Ras GTPase stuck ON 🎯
won't stop dividing 🔁

Q: What affects Efficacy?
A: Vmax 💊
max ceiling effect 🎪
dose-independent ⛰️

Q: What does Sn (Tin) do?
A: hair structure 💇
deficiency = hair loss 👨‍🦲 ⚠️

Q: What is Neoplasm?
A: new uncontrolled growth 💥
tissue gone rogue 🏴‍☠️ 🔬

Q: What cancer has BRCA?
A: Breast + Ovarian 🧬
BRCA tumor suppressor lost 🎯
two-hit 💔

Q: What does Lipo- tell you?
A: fat / adipose origin 🧈
lipoma = benign blob 🍔 🔬

Q: What cancer has PSA?
A: Prostate adenocarcinoma 🎯
PSA tumor marker 🔬
old man gland 👴

Q: What does -oma tell you?
A: tumor 🔬
usually benign 🟢 🎭

Q: What does Trypsin cut?
A: cleaves R of Arg + Lys ✂️
basic = positive ➕ 🧪

Q: What cancer has CA-125?
A: Ovarian carcinoma 🎯
CA-125 marker 💀
silent killer 🤫

Q: What cancer has S-100?
A: Melanoma + Schwannoma + LCH 🎯
S-100 marker 🔬
neural crest origin 🧠

Q: What does Osteo- tell you?
A: bone origin 🦴
osteo = the skeleton 💀 🔬

Q: What does CNBr cut?
A: cleaves R of Met ✂️
cyanogen bromide 💀 🧪

Q: What are the Pyrimidines?
A: Cytosine, Uracil, Thymine 🧬
single-ring 🔬
CUT the pyramids 🔺

Q: What does Vit B2 do?
A: FAD / FMN cofactor 👄
cheilosis + corneal vessels 👁️ 🧩

Q: What cancer has CA-19?
A: Pancreatic adenocarcinoma 🎯
CA-19-9 marker 💀
Courvoisier sign 🟡

Q: What does Biotin do?
A: carboxylation cofactor 🧩
pyruvate + acetyl-CoA + propionyl-CoA ➕CO₂ 💨

Q: What has t(11,22)?
A: Ewing's sarcoma 🧬
t(11;22) 🔗
EWS-FLI1 fusion 🦴 💀

Q: What does a Thio do?
A: Thiol agents ✂️
break S-S bonds ⚗️
reduce disulfides 🔗💥

Q: What is the smallest amino acid?
A: Glycine 🧪
H side chain 👶
only achiral AA ⚖️

Q: What has t(9,22)?
A: CML 🧬
t(9;22) Philadelphia 🔗
bcr-abl fusion 🔬
imatinib 🎯

Q: What cancer has AFP?
A: HCC + yolk sac tumor 🎯
AFP marker 🍼
fetal protein returns 👶

Q: What does Adeno- tell you?
A: glandular epithelium 🔬
makes goo 💧 🧈

Q: What does a Northern blot detect?
A: detects RNA 🧪
gene expression 🔊 🧬

Q: What does a Southern blot detect?
A: detects DNA 🧪
gene presence 📜 🧬

Q: What does Vit B9 do?
A: nucleotide + methyl synthesis 🤰
megaloblastic + NTDs 🧠 🧩

Q: What does -carcinoma tell you?
A: malignant epithelial 💀
cancer of linings 🩸 🔬

Q: What does Vit C do?
A: Ascorbate (C) 🍊
collagen hydroxylation 🧩
scurvy if low 🦷

Q: What cancer has β-HCG?
A: Choriocarcinoma + mole + germ cell 🎯
β-HCG marker 🤰
grape-cluster uterus 🍇

Q: What cancer has CEA?
A: Colorectal + pancreatic 🎯
CEA recurrence marker 🔬
not for screening 📈

Q: What causes lateral leg bowing?
A: Rickets 👶
Vit D deficiency in kids 🦴
bowed legs + rachitic rosary ☀️

Q: What cancer has Bombesin?
A: Neuroblastoma + SCLC 🎯
Bombesin marker 👶
kids + smokers 🚬

Q: What does a Western blot detect?
A: detects protein 🧪
HIV confirmatory 🦠 🧬

Q: What is a point mutation?
A: single base change 🧬
silent / missense / nonsense 🎪 🎯

Q: What amino acids does β ME cut?
A: β-ME ✂️
reduces Cys-Cys disulfides 🧪
and Met thioethers 🔗💥

Q: What are the basic amino acids?
A: Lys, Arg, His 🧪
positive at pH 7 ➕
basic = base camp ⛺

Q: How does Scleroderma present?
A: tight skin 🎭
anti-Scl-70 diffuse / anti-centromere CREST 🥄 🔬

Q: What is Hypertrophy?
A: bigger cells 💪
no new cells 🏋️ 🔬

Q: What cancer has 5-HT?
A: Carcinoid syndrome 🎯
5-HT release 😳
flush + diarrhea + wheeze
5-HIAA in urine 🍷

Q: What are the acidic amino acids?
A: Asp + Glu 🧪
negative at pH 7 ➖
acidic = sour 🍋

Q: What does Chymotrypsin cut?
A: cleaves R of Phe, Tyr, Trp ✂️
aromatic ring eater 🔆 🧪

Q: What does Vit B3 do?
A: NAD / NADP cofactor 🌽
pellagra: 3 Ds 🧩
diarrhea + dermatitis + dementia 🧠

Q: What are the N-bond amino acids?
A: Asn + Gln 🧪
N-linked glycosylation sites 🔗
amide arm 💪

Q: What does Fibro- tell you?
A: fibrous connective tissue 🪢
stringy stuff 🧵 🔬

Q: What cancer has c-myc?
A: Burkitt's lymphoma 💥
t(8;14) 🔗
c-myc activation 🌍
starry sky ⭐

Q: What does Mg2+ do?
A: PTH release + kinase cofactor 🧩
ATP binding partner 🔋 💉

Q: What does Leiomyo- tell you?
A: smooth muscle origin 💪
uterus / gut wall 🌀 🔬

Q: What is Hyperplasia?
A: more cells (count up) 🔬
BPH classic 🫘 👥

Q: What does Hemangio- tell you?
A: blood vessel origin 🩸
vascular tumor 🍓 🔬

Q: What cancer has bcl-2?
A: Follicular lymphoma 🧬
t(14;18) 🔗
bcl-2 anti-apoptotic 💀
can't die 🧟

Q: Where does the Pre label send stuff to?
A: Pre- signal sequence 📦
routes to rough ER 🔬
membrane / secreted proteins 📮

Q: What does a Lyase do?
A: cleaves C-C bonds ✂️
no ATP / no water 💧❌ 🧩

Q: What are the ketogenic amino acids?
A: Lys + Leu 🔥
purely ketogenic 🧪
acetyl-CoA only 🥑

Q: What is a nonsense mutation?
A: codon → STOP 🛑
truncated protein ✂️ 🧬

Q: What cancer has Ret?
A: MEN 2A/2B + medullary thyroid 🎯
RET oncogene 🧬
C-cell calcitonin 🦋

Q: What disease has a Dinucleotide repeat?
A: HNPCC (Lynch) 🧬
microsatellite instability 💀
mismatch repair fail 🛠️

Q: What is Anaplasia?
A: loss of differentiation 👶
regress to embryonic 💀
malignant 🩸

Q: What is Hemochromatosis?
A: HFE mutation, iron overload 🧬
bronze diabetes + cirrhosis 💔 🟫

Q: What is an Exothermic Reaction?
A: releases heat 🔥
-ΔH ↓ 🌡️ ⚗️

Q: What is an Endothermic Reaction?
A: absorbs heat 🥶
+ΔH ↑ 🌡️ ⚗️

Q: What does Elastase cut?
A: cleaves R of Gly, Ala, Ser ✂️
small residues 🐭 🧪

Q: What are the O-bond amino acids?
A: Ser + Thr + Tyr 🧪
O-linked glycosylation / phosphorylation 🔗
hydroxyl handles 🔌

Q: What is Bronze cirrhosis?
A: iron deposits in liver 🟫
hemochromatosis liver 🍺 💀

Q: What does Rhabdomyo- tell you?
A: skeletal muscle origin 💪
striated 🏋️ 🔬

Q: Which amino acid can act as a buffer?
A: Histidine 🧪
pKa ~6 ⚖️
buffers at physiologic pH 💧

Q: What does a Kinase do?
A: phosphorylates substrate ⚡
uses ATP 🔋 🧩

Q: What is Atrophy?
A: smaller cells / tissue 🥀
disuse / denervation 🛌 🔬

Q: What is Bronze diabetes?
A: iron deposits in pancreas 🟫
hemochromatosis 🥄 🍬

Q: What are the branched amino acids?
A: Leu + Ile + Val 🌳
BCAA 🧪
maple syrup urine disease 🍁

Q: What does Mercaptoethanol cut?
A: reduces Cys-Cys + Met disulfides ✂️
disulfide killer 🔗💥 🧪

Q: What is Bronze pigmentation?
A: iron deposits in skin 🟫
hemochromatosis ☀️ 🎨

Q: What are the aromatic amino acids?
A: Phe + Tyr + Trp 🌸
UV-absorbing at 280nm 🧪
big ring side chains 💍

Q: What cancer has L-myc?
A: Small cell lung carcinoma 🎯
L-myc amplification 🚬
paraneoplastic syndromes 🫁

Q: What is Trisomy 18?
A: Edwards (T18) 👶
extra chromosome 18 🧬
rocker-bottom feet + clenched fists + micrognathia + VSD 💔

Q: What is Sandhoff's?
A: hex A + B deficiency 🧬
Tay-Sachs + hepatosplenomegaly 🫘 💀

Q: What is Hemosiderosis?
A: iron in macrophages / marrow 🩸
no organ damage 🟢 🟫

Q: What does a Phosphatase do?
A: removes phosphate 🧩
hydrolyzes the P bond ✂️ 💧

Q: What is Diffusion?
A: high → low concentration 💨
no ATP needed 🆓 ⚗️

Q: What does Aminopeptidase cut?
A: chews from N-terminus ✂️
removes N-terminal AA ➡️ 🧪

Q: What has t(8,14)?
A: Burkitt's lymphoma 🧬
t(8;14) 🔗
c-myc translocation 🌍
starry sky histology ⭐

Q: What does a Hydrolase do?
A: breaks bonds with water 💧
hydrolysis ✂️ 🧩

Q: Where does the Mannose-6-P send stuff to?
A: M6P tag 📦
routes to lysosome 🔬
I-cell disease if defective 💀

Q: What does Vit D do?
A: Calcitriol (D) ☀️
Ca + PO4 absorption 🦴
rickets / osteomalacia if low 👶

Q: What causes anterior leg bowing?
A: Congenital syphilis 👶
treponemal periostitis 🦴
saber shins ⚔️

Q: What is Albinism?
A: tyrosinase deficiency 🧬
no melanin from Tyr ⚪
↑skin cancer 🌞

Q: What is Angelman's?
A: maternal UBE3A deletion 🧬
happy puppet + ataxia + inappropriate laughter 🎭 😄

Q: What is mosaicism?
A: two cell lines from one zygote 🧬
partial syndrome features 🧩 🎨

Q: What is the typical incidence of rare things?
A: Baseline risk 📊
1-3% population incidence 🎯
rare = floor 🚪

Q: What does THF donate methyl groups for?
A: nucleotide synthesis 🧩
purines + thymidylate 🧬 🧬

Q: What does Zn2+ do?
A: cofactor for 100+ enzymes 🧩
taste + wound healing + sperm 👃 👅

Q: What cancer has Rb?
A: Retinoblastoma + osteosarcoma 👁️
Rb two-hit tumor suppressor 💀
white pupil reflex ⚪

Q: What has t(14,18)?
A: Follicular lymphoma 🧬
t(14;18) 🔗
bcl-2 overexpression 💀
anti-apoptotic 🧟

Q: What are the sulfur-containing amino acids?
A: Cys + Met 🧪
form disulfide bonds 💛
Met = start codon 🚦

Q: What does a Phosphorylase do?
A: adds phosphate using Pi 🧩
no ATP needed 💰 💎

Q: What is the rate limiting enzyme in Urea cycle?
A: CPS-I 🧪
mitochondrial 💨
NH3 + CO2 + 2 ATP ♻️

Q: What is the most common intracellular buffer?
A: His residues + phosphate 🧪
inside the cell 🏠 ⚖️

Q: What does biotin donate CO2 groups for?
A: carboxylation cofactor 🧩
pyruvate + acetyl-CoA + propionyl-CoA ➕CO₂ 💨

Q: What does a Galactokinase deficiency cause?
A: galactose → galactitol 🧬
infantile cataracts 👁️
mild 👶

Q: What is the rate limiting enzyme in Glycolysis?
A: PFK-1 🧪
phosphofructokinase-1 ⚡
activated by AMP + F2,6BP 🔋

Q: What is the typical incidence with 1 risk factor?
A: ~10% 📊
one risk factor 🎯
a coin flip nope 🎲

Q: What is XYY syndrome?
A: extra Y 🧬
tall + normal fertility 📏
mild ↑aggression 💪

Q: What is a Hamartoma?
A: disorganized native tissue 🔬
normal cells, normal place 🏠 🧩

Q: What does -sarcoma tell you?
A: malignant mesenchymal 💀
connective tissue cancer 🦴 🪢

Q: What are the essential fatty acids?
A: Linolenic (ω-3) + Linoleic (ω-6) 🥑
cannot synthesize 🧪
must eat 🍣

Q: How does Ehlers Danlos present?
A: collagen III / V defect 🎪
hyperextensible skin + joints + easy bruising 🤸 🧬

Q: What is the typical incidence with 2 risk factors?
A: ~50% 📊
two risk factors 🎯
coin flip city 🪙

Q: What is a Choristoma?
A: normal tissue, abnormal location 🔬
ectopic rest 🗺️ 📍

Q: What is the typical incidence with 3 risk factors?
A: ~90% 📊
three risk factors ⚠️
almost guaranteed 🎯

Q: What cancer has N-myc?
A: Neuroblastoma 🎯
N-myc amplification 👶
Homer-Wright pseudorosettes
↑urine VMA / HVA 🟡

Q: What is the rate limiting enzyme in β- oxidation?
A: CPT-1 (CAT-1) 🧪
carnitine shuttle in 🚪
inhibited by malonyl-CoA 🛑

Q: What does a Dehydrogenase do?
A: removes H using NAD+/FAD ⚗️
redox reaction ⚡ 🔋

Q: What does Fe2+ do?
A: Hb O2 binding + ETC cofactor 🩸
iron carries oxygen 🫁 🧩

Q: What amino acid turns yellow on Ninhydrin reaction?
A: Proline 🧪
secondary amine 💛
yellow vs purple 🟣

Q: What is the rate limiting enzyme in the HMP shunt?
A: G6PD 🧪
makes NADPH 🔋
hemolysis if deficient 🩸

Q: What is Marasmus?
A: total calorie deficiency 💀
skinny + muscle wasting 🍽️
no edema 🦴

Q: What amino acids does Acid Hydrolysis denature?
A: Asn → Asp, Gln → Glu 🧪
destroys Trp 💀 💥

Q: What is the most common extracellular buffer?
A: Bicarbonate 🧪
HCO3⁻ / H2CO3 system ⚖️
outside the cell 🩸

Q: What is a frameshift mutation?
A: indel not divisible by 3 🧬
reading frame scrambled 🎰 💥

Q: What is Hurler's?
A: α-L-iduronidase deficiency 🧬
gargoylism + corneal clouding + MR 👁️ 💀

Q: What does Vit B5 do?
A: part of CoA 🧩
fatty acid synthase 🧈 🥑

Q: Where did Mitochondrial diseases come from?
A: Maternal inheritance 🧬
mom → all kids 👩
variable via heteroplasmy 🎨

Q: What does SAM donate methyl groups for?
A: methylates DNA / NT / phospholipids 🧩
NOT nucleotide synthesis ❌ 🧬

Q: What is the most common anterior mediastinal tumor?
A: Thymoma 🔬
4 Ts in anterior mediastinum 🎯
Thymoma + Teratoma + Thyroid + Terrible lymphoma ⬆️

Q: What is a silent mutation?
A: base change, same AA 🤫
wobble position 🎯 🧬

Q: What does Vit B6 do?
A: transaminase cofactor + heme + NT synthesis 🧩
INH causes deficiency ⚠️ 🧪

Q: What is Km?
A: substrate [c] at ½ Vmax 📊
inverse of affinity 🎯 🧪

Q: What is a missense mutation?
A: base change → different AA 🧬
sickle cell Glu→Val 🩸 🎭

Q: What is Active Transport?
A: against gradient 💪
requires ATP ⚡ 🔋

Q: How many ATPs does it take to make a fatty acid?
A: FA synthesis ATP 🧈
# carbons - 1 🔋
palmitate C16 = 15 ATP 🥑

Q: What is Krabbe's?
A: galactocerebrosidase deficiency 🧬
globoid cells + peripheral neuropathy + optic atrophy 👁️ 💀

Q: What is the most common middle mediastinum tumor?
A: Pericardial / bronchogenic cysts 🔬
middle mediastinum 🫁
benign cyst 🫧

Q: Where did X-linked Dominant diseases come from?
A: affected dad → ALL daughters 🧬
NO sons affected from dad 👨
hypophosphatemic rickets 🦴

Q: What is Desmoplasia?
A: tumor in dense fibrous stroma 🪢
pancreatic adenocarcinoma classic 🪨 💀

Q: What is Metaplasia?
A: reversible cell-type swap 🎭
Barrett's esophagus 🍔 🔬

Q: How does Scurvy present?
A: Vit C deficiency 🍊
bleeding gums + corkscrew hairs + perifollicular hemorrhage 🦷 💀

Q: How many NADPHs does it take to make a fatty acid?
A: FA synthesis NADPH 🧈
# carbons - 2 🔋
palmitate C16 = 14 NADPH ⚡

Q: What is Hunter's?
A: iduronate sulfatase, X-linked 🧬
milder MPS, NO corneal clouding 👨
aggressive 🎯

Q: What does Vit B12 do?
A: methionine synthase + methylmalonyl-CoA mutase 🧩
megaloblastic + neuro 🧠 🩸

Q: What is Niemann-Pick?
A: sphingomyelinase deficiency 🧬
cherry-red macula + foam cells + HSM 🍒 💀

Q: What is the rate limiting enzyme in Pyrimidine synthesis?
A: CPS-II 🧪
cytosolic 🧬
pyrimidine synthesis 🔺

Q: What is the rate limiting enzyme in Ketogenesis?
A: HMG-CoA synthase 🧪
mitochondrial 🔥
starts ketones 🥑

Q: What does Cr (Chromium) do?
A: enhances insulin action 🧩
deficiency = glucose intolerance 🍩 🍬

Q: What is Pompe's?
A: acid maltase deficiency (GSD II) 🧬
cardiomegaly + hypotonia + early death 👶 💔

Q: What is XXX syndrome?
A: extra X 🧬
normal female + 2 Barr bodies 👩
mild learning issues 📚

Q: What is the rate limiting enzyme in Heme synthesis?
A: ALA synthase 🧪
δ-aminolevulinate synthase 🩸
Vit B6 cofactor 🧩

Q: What does Vit B1 do?
A: PDH + α-KG DH + transketolase + BCKDH 🧩
Wernicke-Korsakoff + beriberi 🧠 🍺

Q: What is the most common posterior mediastinal tumor?
A: Neurogenic tumors 🔬
neuroblastoma + schwannoma 👶
posterior mediastinum 🧠

Q: What is the rate limiting enzyme in Glycogenesis?
A: Glycogen synthase 🧪
builds glycogen 🥖
insulin activates 💉

Q: What is the Peak level?
A: 4 hr post-dose 💊
high peak → ↓ dose 🔝 📈

Q: What does Se (Selenium) do?
A: glutathione peroxidase cofactor 🧩
Keshan dilated cardiomyopathy if low 💔 ❤️

Q: What is the rate limiting enzyme in Purine synthesis?
A: PRPP synthetase 🧪
or Gln-PRPP amidotransferase 🧬
purine synthesis 🥇

Q: What is the rate limiting enzyme in FA synthesis?
A: Acetyl-CoA carboxylase 🧪
biotin cofactor 🧈
citrate activates, glucagon inhibits 🍋

Q: What is the reason for anticipation?
A: trinucleotide repeat expansion 🧬
earlier + worse each generation ⏰
Huntington + fragile X 🎯

Q: What is Zero-order kinetics?
A: constant amount per time 💊
aspirin + ethanol + phenytoin 🍺 📏

Q: What is the Isoelectric Point?
A: pH at zero net charge 🧪
zwitterion form ➕➖ ⚖️

Q: How does Takayasu arteritis present?
A: granulomatous aortitis 🎯
young Asian female + pulseless arms 🩸
↑ESR 📈

Q: What is a transversion?
A: purine ↔ pyrimidine 🧬
less common 🎭 🔄

Q: How does Osteogenesis Imperfecta present?
A: Type I collagen defect 🦴
multiple fractures + blue sclera + hearing loss 👶 💙

Q: What does α1 - AT do?
A: α1-antitrypsin 🧪
inhibits neutrophil elastase 🫁
panacinar emphysema + cirrhosis (PiZZ) 🩸

Q: What does the Citrate shuttle do?
A: acetyl-CoA OUT of mito 🚂
for FA synthesis 🥑 🧈

Q: What does the Carnitine shuttle do?
A: long-chain FA INTO mito 🚂
for β-oxidation ⚡ 🔥

Q: What is the rate limiting enzyme in TCA cycle?
A: Isocitrate dehydrogenase 🧪
rate limiting TCA step ♻️
NADH producer 🔋

Q: What is the Trough level?
A: just before next dose 💊
high trough → ↑ dosing interval ⏱️ 📉

Q: What is Anderson's?
A: branching enzyme deficiency 🧬
long unbranched glycogen + cirrhosis 💀
early death 👶

Q: What is the rate limiting enzyme in Gluconeogenesis?
A: F-1,6-BPase 🧪
fructose-1,6-bisphosphatase rate limiting 🍬
pyruvate carboxylase = first committed step 1️⃣

Q: What does Galactosemia cause?
A: GALT deficiency 🧬
cataracts + MR + hepatomegaly + E. coli sepsis 🦠 👶

Q: What does a Carboxylase do?
A: adds CO2 using ATP + biotin 🧩
C-C bond formation 💨 ➕

Q: What is EC50?
A: drug [c] at 50% max response 💊
potency marker 🎯 📊

Q: Why do we stop CPR after 20-30min?
A: Brain ischemia limit 🧠
irreversible neuronal injury 💀
brain can't tolerate >5min ischemia ⏱️

Q: What is the rate limiting enzyme in Glycogenolysis?
A: Glycogen phosphorylase 🧪
breaks down glycogen 🥖
glucagon / epi activates 📞

Q: What is Cori's?
A: debranching enzyme deficiency 🧬
short outer branches 🍞
milder than von Gierke 👶

Q: What are the glucogenic + ketogenic amino acids?
A: PITT (+ Tyr) 🧪
both glucogenic + ketogenic 🥑
Phe, Ile, Thr, Trp 🔥

Q: What are the fastest killing cancers?
A: Pancreatic + esophageal 💀
late presentation ⚡
poor 5-year survival ⏰

Q: What does Mn (Manganese) do?
A: SOD + arginase cofactor 🧩
deficiency rare 🦠 ⚗️

Q: What does Cu2+ do?
A: lysyl oxidase + cytochrome c oxidase + ceruloplasmin 🧩
collagen cross-linking 🔗 🪢

Q: What is Lesch-Nyhan?
A: HGPRT deficiency (X-linked) 🧬
hyperuricemia + gout + self-mutilation + choreoathetosis 🦷 💀

Q: What is Kwashiorkor?
A: protein deficiency, adequate calories 💀
ascites + edema + fatty liver + skin lesions 🟡 🍽️

Q: What does Mb (Molybdenum) do?
A: xanthine oxidase + sulfite oxidase cofactor 🧩
rare deficiency 🟢 ⚗️

Q: What is the rate limiting enzyme in Cholesterol synthesis?
A: HMG-CoA reductase 🧪
cholesterol synthesis rate-limiting 💊
statin target 🎯

Q: Why do we only have 6hrs to use t- PA?
A: tPA 6-hr window 🧠
after 6 hr = irreversible neuronal injury ⏰
{UP}hemorrhagic transformation risk 🩸

Q: What is Metachromatic Leukodystrophy?
A: arylsulfatase A deficiency 🧬
central + peripheral demyelination + ataxia + dementia 🧠 💀

Q: What does a Mutase do?
A: intramolecular group shuffle 🔄
moves functional group within molecule 🎲 🧩

Q: What lysosomal storage diseases have cataracts?
A: Fabry's + Hurler's 👁️
lysosomal cataracts 🧬
Four eyes mnemonic 👓

Q: What is McArdle's?
A: muscle glycogen phosphorylase deficiency 🧬
exercise intolerance + cramps + myoglobinuria 🏋️ 💪

Q: What does Carboxypeptidase cut?
A: chews from C-terminus ✂️
removes C-terminal AA ⬅️ 🧪

Q: Where did X-linked Recessive diseases come from?
A: carrier mom → affected sons 🧬
skips generations via maternal uncle / grandpa 👴 👨

Q: How does Kinky hair disease present?
A: Menkes disease 🧬
ATP7A defect, copper deficiency 💇
kinky brittle hair + hypotonia + neurodegeneration 👶

Q: What lysosomal diseases have a cherry-red macula
A: Tay-Sachs + Niemann-Pick + Sandhoff 🍒
cherry-red macula 👁️
lysosomal storage trio 🧬

Q: What are modifier loci?
A: other genes alter severity 🧬
expression dimmer switch 🔆 🎚️

Q: What is Potency?
A: lower EC50 = more potent 💊
{DN} by competitive antagonist 📊 🎯

Q: What is Fructosemia?
A: Hereditary fructose intolerance 🧬
aldolase B deficiency 👶
hypoglycemia + jaundice + vomiting after fructose 🍎

Q: What is Competitive Inhibition?
A: binds active site ⚔️
↑Km, no ΔVmax 💊
overcome with more substrate 📈

Q: What is decreased penetrance?
A: has gene, no phenotype 🧬
silent carrier 🤫 🎭

Q: What is a transition?
A: purine ↔ purine OR pyrimidine ↔ pyrimidine 🧬
more common 📊 🔄

Q: What is Tay-Sachs?
A: Hex A deficiency 🍒
cherry-red macula + progressive neurodegen 💀
NO HSM 🚫

Q: What does a Synthase do?
A: joins substrates 🧩
NO ATP needed 🆓 🤝

Q: What is Efficacy?
A: max effect achievable 💊
reduced by non-competitive antagonist 🎪
unrelated to potency ⛰️

Q: What lysosomal storage diseases are more common in Ashkenazi Jews?
A: Gaucher + Tay-Sachs + Niemann-Pick 🕎
Ashkenazi Jewish trio 🧬
lysosomal storage 🧬

Q: What does a Transferase do?
A: transfers functional group 🧩
between molecules 🤝 🔁

Q: What is von Gierke?
A: G6Pase deficiency 🧬
severe fasting hypoglycemia + hepatomegaly + lactic acidosis 🍼 👶

Q: What is t1/2?
A: Half-life (t½) 💊
time to fall by 50% ⏱️
first-order kinetics 📉

Q: How does Homocystinuria present?
A: cystathionine synthase deficiency 🧬
Marfanoid + downward lens dislocation + MR + thrombosis 🧠 💀

Q: What does Vit A do?
A: Retinol (A) 👁️
vision (rhodopsin) + epithelial differentiation 🥕
night blindness + xerophthalmia if low 🌙

Q: What is 1st-order kinetics?
A: constant fraction per time 💊
proportional to [drug] 📉 📊

Q: What is Dysplasia "carcinoma in situ"?
A: disordered cell growth 🔬
loss of contact inhibition, intact basement membrane 🚧 ⚠️

Q: What are the anabolic + catabolic pathways?
A: HUG mnemonic ♻️
Heme + Urea + Gluconeogenesis 🧪
cytosolic + mitochondrial 🤗

Q: What does Autosomal Recessive usually indicate?
A: AR pattern 🧬
enzyme deficiency 🧪
25% affected + 50% carriers ⚖️

Q: What is Non-competitive Inhibition?
A: binds allosteric site 💊
↓Vmax, no ΔKm 🧩
cannot be overcome 🛑

Q: What does Autosomal Dominant usually indicate?
A: AD pattern 🧬
structural protein defect 🪢
50% transmission
both sexes equally 👫

Q: What is Essential Fructosuria?
A: fructokinase deficiency 🧬
benign + fructose in urine 🟢
hexokinase backs up 🍯

Q: What does a Synthetase do?
A: joins substrates WITH ATP 🧩
vs synthase which does not 🔋 ⚡

Q: What is Fabry's?
A: α-galactosidase A deficiency 🧬
angiokeratomas + neuropathic pain + renal / cardiac failure 🔥 👨

Q: What does Ca2+ do?
A: NT release + cardiac SA/AV + muscle contraction 🧩
clotting factor IV 🩸 💓

Q: What is locus Heterogeneity?
A: same phenotype, different gene loci 🧬
albinism + retinitis pigmentosa 🎨 🎯

Q: What is a Zwitterion?
A: + and - charges, no net 🧪
AA at pI ➕➖ ⚖️

Q: What lysosomal diseases have a Gargoyle face
A: Gaucher + Hurler 🗿
gargoyle face 🧬
Gauche it Hurts to look at your face 😬

Q: What is Gaucher's?
A: glucocerebrosidase deficiency 🧬
wrinkled tissue-paper macrophages + HSM + Erlenmeyer flask femurs 🧪 🦴

Q: What do white diaper crystals suggest?
A: Orotic aciduria 👶
UMP synthase defect 🧪
pyrimidine synthesis defect ⚪

Q: How many rounds does it take to make/break a fatty acid?
A: (# carbons / 2) - 1 🧈
palmitate C16 = 7 rounds ♻️ 🔄

Q: What are the catabolic pathways that create energy?
A: ABC mnemonic ⚡
Acetyl-CoA + β-oxidation + Citric acid cycle ♻️
catabolic energy 🔋

Q: What does an Isomerase do?
A: rearranges atoms within molecule 🔄
glucose ↔ fructose 🍇 🧩

Q: What is variable expression?
A: same genotype, different phenotype severity 🧬
NF1 classic ☕ 🎚️

Q: What is heteroplasmy?
A: mix of normal + mutant mtDNA 🧬
variable mtDNA disease expression 🌀 🎨

Q: What does an Epimerase do?
A: flips configuration at one chiral C 🔄
glucose ↔ galactose 🔀 🧩

Q: What is Benign?
A: encapsulated + slow growth 🟢
no metastasis, hurts by compression 🎈 🔬

Q: What is the difference b/w Heterochromatin and Euchromatin?
A: Hetero = tight + silent 🧬
Eu = loose + active 📖 🔬

Q: What is PKU?
A: phenylalanine hydroxylase deficiency 🧬
MR + musty odor + fair skin / hair + eczema 👶
avoid aspartame 🚫

Q: Why are the liver and adrenal cortex able to mobilize glycogen into the bloodstream (increase plasma glucose)?
A: G6Pase organs 🧪
liver + adrenal cortex have G6Pase 🍬
muscle keeps G6P for itself 💪

Q: What are the anabolic pathways that store energy?
A: EFGH mnemonic ⚡
ER processes + FA synthesis + Glycolysis + HMP shunt 📦
cytosolic energy storage 🏦