insight
Forum Junior
Topics: 13
Posts: 36
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A 17 year old girl has abdominal pain, sweating, headaches, and black urine every time she consumes alcohol. What is the diagnosis and what enzyme is decreased?
A) ALAD deficiency porphyria,
B) Acute intermittent porphyria,
C) Congenital erythropoietic porphyria,
D) Erythropoietic protoporphyria,
E) Hepatoerythropoietic porphyria,
F) Hereditary coproporphyria,
G) Porphyria cutanea tarda.
H) Variegate porphyria.
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| Eagle_303
Forum Guru
Topics: 77
Posts: 655
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I guess it is AIP and enzyme is PBG deaminase
But passed urine is not black rather it is either red or pink which may later turn black.
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| ngaybinhyen
Forum Guru
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Posts: 657
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B.
an autosomal dominant disorder, results from an approximately 50% deficiency of PBG deaminase. Penetrance is low = the majority of subjects with PBG deaminase deficiency remain asymptomatic
The clinical findings in this pt is consistent with AIP. Alcohol is one of the many unsafe substances to AIP.
Correct?
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| nightflight1945
banned
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| ngaybinhyen
Forum Guru
Topics: 23
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insight, what would you say?
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