A 6-month-old girl with metachromatic leukodystrophy (MLD) fails to thrive and dies of respiratory insufficiency. Histologic examination of the child’s brain at autopsy shows marked accumulation of...

A 6-month-old girl with metachromatic leukodystrophy (MLD) fails to thrive and dies of respiratory insufficiency. Histologic examination of the child’s brain at autopsy shows marked accumulation of metachromatic material in the white matter and prominent astrogliosis. Laboratory studies confirm an accumulation of cerebroside. This patient most likely suffered from an inborn error of metabolism, characterized by a deficiency of which of the following enzymes?

(A) Arylsulfatase


(B) Galactosidase


(C) Mannosidase


(D) N-acetyl-hexosaminidase


(E) Phenylalanine hydroxylase



May 24, 2022
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