A 14-year-old girl is brought to the physician because of a 1-month history of migraine-like headaches, vomiting, and mu
Posted: Mon Apr 11, 2022 7:01 am
A 14-year-old girl is brought to the physician because of a 1-month history of migraine-like headaches, vomiting, and multiple left-sided focal seizures. She has had hearing loss since the age of 11 years Her mother and maternal grandmother have high-tone deafness. Physical examination shows loss of vision in one half of the visual field of the. right eye and weakness of the right upper and lower extremities. Serum and cerebrospinal fluid concentrations of !actic acid are increased. This patient most likely has a mutation of which of the following?
A. Endoplasmic reticulum glycosyltransferase
B. Lysosomala-glucosidase
C. MitochondrialtRNAL•u Nuclearproteasomeactivator
D. Peroxisomalcatalase
A. Endoplasmic reticulum glycosyltransferase
B. Lysosomala-glucosidase
C. MitochondrialtRNAL•u Nuclearproteasomeactivator
D. Peroxisomalcatalase