Biochem Buzzy Presentations Flashcards

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1
Q

Urine left standing turns black

A

Alkaptonuria (hereditary deficiency in homogentisic acid dioxygenase)

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2
Q

Blue black deposits in connective tissue
Sclerae and ear cartilage hyperpigmentation
Osteoarthropathy of spine and large joints

A

Alkaptonuria

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3
Q

Perifollicular hemorrhage + coiled/corkscrew hairs

A

Scurvy

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4
Q

Musty or mousy body odor

A

Accumulation of abnormal phenylalanine metabolites (PKU)

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