431.2 📚 國考版（醫師國考 / PGY OSCE）

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431.2.0.1 📌 Cram Sheet

431.2.0.1.1 🔥 高 yield 15

1. GSD I（von Gierke）enzyme：glucose-6-phosphatase
2. GSD I 臨床 6 大：fasting hypoglycemia + lactic acidosis + hyperuricemia + hyperlipidemia + hepatomegaly + nephromegaly
3. GSD I hypoketotic（不是 ketotic！）
4. GSD Ib 特徵 + 治療：neutropenia + IBD + 反復感染；empagliflozin（22E 新適應症）
5. GSD III（Cori）enzyme：glycogen debranching enzyme；normal lactate + uric
6. GSD III 飲食：high protein（gluconeogenesis intact）
7. GSD V（McArdle）enzyme：myophosphorylase
8. McArdle 經典徵：second-wind phenomenon
9. McArdle 治療：pre-exercise sucrose + warm-up + avoid statin
10. GSD VII（Tarui）：PFK, out-of-wind（與 McArdle 相反）
11. Classic galactosemia enzyme：GALT
12. Galactosemia 女性必要 endocrine surveillance：POI（premature ovarian insufficiency）
13. HFI enzyme：aldolase B；fructose aversion
14. G6PD def 遺傳：X-linked；台灣 NBS 重要項目
15. G6PD trigger 必背：fava beans、primaquine/tafenoquine、dapsone、sulfa、nitrofurantoin、rasburicase、methylene blue、high-dose aspirin

431.2.0.1.2 🔢 必背 GSD 對應表

GSD	Eponym	Enzyme	Organ	Hallmark
0a	—	glycogen synthase 2	liver	rare, no hepatomegaly
Ia	von Gierke	G6Pase	liver+kidney	fasting hypoglyc + lactic acidosis + hyperuricemia + hyperlipidemia
Ib	—	G6P translocase	+ neutropenia	+ IBD, infections
II	Pompe	lysosomal GAA	muscle (cardiac + skeletal)	IOPD cardiac / LOPD limb-girdle
III	Cori / Forbes	debrancher	liver + muscle (IIIa)	ketotic hypoglyc, normal lactate, high protein
IV	Andersen	brancher	liver / APBD	liver failure infant; APBD adult Ashkenazi
V	McArdle	myophosphorylase	muscle	exercise intolerance + second-wind
VI	Hers	liver phosphorylase	liver	mild, Mennonite
VII	Tarui	PFK	muscle + hemolysis	out-of-wind
IX α2	—	PhK (liver)	liver	X-linked, mild
Danon	—	LAMP2	cardiac + muscle	X-linked, WPW, severe CM
PRKAG2	—	AMPK γ2	cardiac	AD, WPW, CM, arrhythmia

431.2.0.1.3 🔢 必背 Carbohydrate disorders

Disease	Enzyme	Inheritance	Hallmark
Classic galactosemia	GALT	AR	newborn vomiting+jaundice+E.coli sepsis+cataract; POI female
GALK deficiency	galactokinase	AR	cataract only
HFI	aldolase B	AR	fructose aversion, hypoglyc
Essential fructosuria	fructokinase	AR	benign, urine reducing substance
G6PD def	G6PD	X-linked	oxidative hemolysis, favism

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431.2.0.2 ⭐ 高 yield 圖表

431.2.0.2.1 GSD I labs（鑑別 hypoglycemia）

• Hypoglycemic + HYPOKETOTIC（不是 ketotic！）
• Lactate ↑↑
• Uric acid ↑
• Triglyceride ↑ + Cholesterol ↑
• AST/ALT 輕中 ↑
• No fasting Δ to glucagon challenge（diagnostic test 歷史）

431.2.0.2.2 GSD III labs（與 GSD I 比）

Feature	GSD I	GSD III
Fasting hypoglycemia	✅	✅
Ketone	↓（hypoketotic）	✅（多 ketotic）
Lactate	↑↑	normal
Uric acid	↑	normal
AST/ALT	mild ↑	marked ↑
Urine Glc4	↑	↑↑
Diet protein	normal	high protein

431.2.0.2.3 McArdle vs Tarui（muscle GSDs）

Feature	McArdle (V)	Tarui (VII)
Enzyme	myophosphorylase	PFK
Exercise intolerance	✅	✅
Myoglobinuria	✅	✅
Second-wind	✅ YES	❌ NO (out-of-wind)
Pre-exercise glucose	helpful	harmful
Hemolysis	❌	✅
Hyperuricemia	rare	✅
Ethnic	varied	Ashkenazi

431.2.0.2.4 G6PD trigger list（必背）

• Drugs：
  • Antimalarial：primaquine, tafenoquine, chloroquine (high-dose)
  • Sulfa：sulfamethoxazole, sulfadiazine, dapsone
  • Antibiotics：nitrofurantoin, ciprofloxacin (high-dose), nalidixic acid
  • Other：methylene blue, rasburicase（絕對禁忌）, vitamin C IV high-dose, phenazopyridine, high-dose aspirin
• Food：fava beans（蠶豆）
• Environmental：naphthalene（樟腦丸）
• States：infection, DKA, metabolic acidosis

431.2.0.2.5 Galactosemia complications（即便嚴格 diet 仍可發生）

• Cognitive deficits（IQ ↓ 1 SD）
• Speech apraxia
• Motor problems / ataxia
• POI（80-90% females）
• Osteopenia / osteoporosis
• Cataract（recurrent if non-adherent）

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431.2.0.3 🎯 自我檢測

1. GSD I enzyme + eponym? → glucose-6-phosphatase, von Gierke
2. GSD I 重要 4 大 lab? → hypoglyc + lactic acidosis + hyperuricemia + hyperlipidemia
3. GSD I ketotic or hypoketotic? → hypoketotic
4. GSD Ib 額外特徵? → neutropenia + IBD
5. GSD Ib 22E 新適應症藥? → empagliflozin
6. GSD III enzyme + eponym? → debrancher, Cori/Forbes
7. GSD III diet? → high-protein
8. GSD III 與 GSD I 區別? → normal lactate + uric
9. McArdle enzyme + GSD type? → myophosphorylase, V
10. McArdle 經典徵? → second-wind phenomenon
11. McArdle pre-exercise? → sucrose / glucose
12. McArdle 必避免藥? → statin
13. Tarui GSD type? → VII
14. Tarui pre-exercise glucose? → harmful (out-of-wind)
15. Classic galactosemia enzyme? → GALT
16. Galactosemia 女性 endocrine 併發症? → POI
17. HFI enzyme? → aldolase B
18. HFI 嬰兒 history clue? → fructose aversion
19. G6PD 遺傳? → X-linked
20. G6PD def 急性溶血 smear? → bite cells, Heinz bodies
21. G6PD acute hemolysis 量 enzyme 注意? → false-normal in acute phase; retest 3 mo later
22. G6PD def absolute contraindicated drug for TLS? → rasburicase
23. Pompe GSD type? → II
24. Danon disease 遺傳 + key feature? → X-linked, severe CM + WPW
25. PRKAG2 inheritance + key feature? → AD, CM + WPW + arrhythmia

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