Biochem Buzzy Presentations Flashcards
1
Q
Urine left standing turns black
A
Alkaptonuria (hereditary deficiency in homogentisic acid dioxygenase)
2
Q
Blue black deposits in connective tissue
Sclerae and ear cartilage hyperpigmentation
Osteoarthropathy of spine and large joints
A
Alkaptonuria
3
Q
Perifollicular hemorrhage + coiled/corkscrew hairs
A
Scurvy
4
Q
Musty or mousy body odor
A
Accumulation of abnormal phenylalanine metabolites (PKU)