Following clinical manifestation is a feature of
Correct Answer: Argininosuccinic aciduria
Description: Image showing Trichorrhexis nodosa. Argininosuccinic aciduria, accompanied by elevated levels of argininosuccinate in blood, cerebrospinal fluid, and urine, is associated with friable, tufted hair (trichorrhexis nodosa). It is due to the deficiency of the enzyme argininosuccinate lyase. Reference: Harpers illustrated biochemistry 30th edition
Category:
Biochemistry
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