Biochem/Rx/Optho Flashcards
What is Von Gierkes’ Disease
[Type 1 Glycogen Storage - Glucose6Phosphatase deficiency] in Liver/Kidney/Intestine

Von Gierkes’ Disease CP - 4
- Seizures 2/2 hypOglycemia
- Lactic Acidosis
- Doll-Like Fat cheeks
- Protuberant Abd (Hepatomegaly)

[McArdle Glycogen Storage Dz 5] etx
Myophosphorylase Deficiency–> DEC Muscle Glycogenolysis
[McArdle GSD5 Muscle Phosphorylase deficiency] CP
Myoglobinuria with Exercise

[Cori GSD3 Debranching deficiency] CP (3)
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GSD = Glycogen Storage Disease
- SHORT STATURE
- hypOglycemia
- Muscle weakness & hypOtonia

[Cori GSD3 Debranching deficiency] etx
Debranching enzyme deficiency –> accumulation of glycogen with abnormal short outer chains (inability to degrade at alpha1-6 branch points)

What is Pompe Disease
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CP-2
[Type 2 Glycogen Storage - Acid Maltase deficiency] –>
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Floppy baby & HF

What is AmyLoPectinosis?
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CP?
[Type 4 GSD Glycogen Branching deficiency]
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Progressive Cirrhosis

How do pts with Liver phosphorylase deficiency present - 2
Hepatomegaly and growth retardation early in childhood
Slit Lamp Exam indication
Evalutes for abnormalities of ANT eye (conjunctiva, cornea, ANT chamber, iris)
[Niemann Pick] MOD
Sphingomyelinase Deficiency –> accumulation of Sphingomyelin

[Niemann Pick] Clinical Presentation (3)
- Cherry Red Macular Spot
- Neuro Regression
- Hepatosplenomegaly (differentiates from Tay-Sachs)

Tay-Sachs Clinical Presentation (2)
- Cherry Red Macular Spot
- Neuro Regression

Tay-Sachs MOD
[B-Hexosaminidase A Deficiency] –> GM2 accumulation in neurons

Hurler Syndrome etx
lysosomal Hydrolase deficiency

Hurler Syndrome CP-5
- Coarse face
- Corneal Clouding
- Claw Hand
- HepatoSplenomegaly
- Hernias (umbilical vs inguinal)
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lysosomal Hydrolase deficiency

Gaucher Dz etx
auto recessive Glucocerebrosidase deficiency –> accumulates in macrophages –> crumbled newspaper appearance

Gaucher Dz CP-3
- anemia
- thrombocytopenia
- Hepatosplenomegaly
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auto recessive Glucocerebrosidase deficiency –> accumulates in macrophages –> crumbled newspaper appearance

Krabbe Disease etx
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CP-3
[auto recessive GalactoCerebrosidase deficiency]
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- Retard
- hypOreflexia
- hypOtonia
CP for Retinal Detachment - 3

- Floaters
- Visual Curtain descending from periphery
- Photopsia Flashes of Light

Identify

Central Retinal VEIN Thrombosis
- Blood & Thunder appearance 2/2 scattered hemorrhage
- Cotton Wool Spots
- Disk Swelling

diagnosis?
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What’s the most common cause?

Vitreous Hemorrhage
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DM
Fundoscopy = Dark Red Glow with Loss of Fundus details

Causes of Corneal Abrasion - 3
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How do you diagnose Corneal Abrasion?
- Trauma
- Foreign Body under eyelid
- Contact lens –> Corneal epithelial defect
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Fluorescein exam revealing corneal staining defect

Pralidoxime MOA
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Indication
ReActivates AChenesterase
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Organophosphate poisoning (along with giving Atropine)
































