Adenosine-Deaminase (ADA) Deficiency - SlideServe
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Adenosine-Deaminase (ADA) Deficiency - SlideServe
Adenosine-Deaminase (ADA) Deficiency. ADA is responsible gene in ~20% SCID. Often fatal, if untreated, due to infections. It was the first form of SCID where: 1. genetic cause was identified (1972), 2. responsible gene was cloned (1983), 3. gene therapy was approached (1990),
2.4K viewsSep 12, 2011
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Study Smarter with MedSchoolBro on Instagram: "Code HAVIC @medschoolbro = Mystery Discount Acute Intermittent Porphyria (AIP) 🧩 Dx: AIP — porphobilinogen deaminase deficiency ⚡ Triggers: CYP-inducers (barbs, anti-seizures), fasting, alcohol, infections 🖐 5 P’s: Painful abdomen, Port-wine urine (darkens on standing), Polyneuropathy/paresthesias & weakness, Psych changes, Precipitated by drugs 🧪 Labs: ↑ ALA & PBG in urine; normal LFT/lipase/CT 💉 Tx (first-line): Hemin + glucose → downregulates
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Study Smarter with MedSchoolBro on Instagram: "Code HAVIC @medschoolbro = Mystery Discount Acute Intermittent Porphyria (AIP) 🧩 Dx: AIP — porphobilinogen deaminase deficiency ⚡ Triggers: CYP-inducers (barbs, anti-seizures), fasting, alcohol, infections 🖐 5 P’s: Painful abdomen, Port-wine urine (darkens on standing), Polyneuropathy/paresthesias & weakness, Psych changes, Precipitated by drugs 🧪 Labs: ↑ ALA & PBG in urine; normal LFT/lipase/CT 💉 Tx (first-line): Hemin + glucose → downregulates
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