Notes in MCBD Exam 3 Disorders only

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Published	11/16/2023	b58220cafe2647ca96bc2d2fbc4deccf-ao-1
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Published	11/16/2023	What amino acid is toxic to the brain and causes a reduction in tyrosine uptake?
Published	11/16/2023	Tyr can't transform into melanin for some reason... What could be causing this?
Published	11/16/2023	When homogentisic acid cannot be broken down any further, its buildup turns urine & parts of the body a dark color. What is this disease called?
Published	11/16/2023	A patient has an inability to reabsorb cysteine back into his bloodstream after his kidneys filter blood to create urine. This causes Cys to accumulat…
Published	11/16/2023	Methionine(Met) metabolizing into homocysteine is disrupted due to an enzyme defect This is different than Marfan but looks the same (Tall, thin, long…
Published	11/16/2023	A patient has a mutation in Ile, Leu, and Val(or just one of them). He is retarded and suffers from seizures and ketosis. Whats up with him?
Published	11/16/2023	A patient presents with Cerebral palsy; Hearing loss; Intellectual disability; Stains on the enamel of primary teeth. What does he likely have? (…
Published	11/16/2023	How is Kernicterus treated?
Published	11/16/2023	Children living in an area with high level of lead in their drinking water have increased rate of anemia (like Flint water crisis in 2014-2019). Many …
Published	11/16/2023	•Bluish line along the gums •Treatment – Penicillamine, an immunosuppressive drug & heavy metal toxicity medication
Published	11/16/2023	What molecule grabs NH4 to make glutamine and be carried away?
Published	11/16/2023
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