110 Anatomy, Histology, and Cell Biology
44.A 15-month-old girl is referred for ophthalmologic and neurologic fol-
low-up by her pediatrician. The child has shown a failure to thrive, is
microcephalic, exhibits myoclonic jerks, delayed psychomotor develop-
ment, visual disturbance and seizures. Analysis of fibroblasts from the skin
by electron microscopy confirms the presence of fingerprint inclusion bod-
ies. Elevated levels of dolichol are found in the urine. Normally, dolichol is
associated with which cellular process:
a. Sulfation in the transcompartment of the Golgi
b. O-linked glycosylation in the medial compartment of the Golgi
c. O-linked glycosylation in the ciscompartment of the Golgi
d. N-linked glycosylation in the endoplasmic reticulum
e. Sorting of proteins to the lysosome from the TGN
45.A boy is born with epicanthal folds, a high forehead, hypoplastic supra-
orbital ridges, and upslanting palpebral fissures. He shows growth retarda-
tion following birth, he feels like a rag doll when held, and he exhibits
neonatal seizures. He also has a ventricular septal defect, glaucoma, cataracts,
elevated iron and copper levels in his blood, and hepatomegaly. A liver
biopsy is prepared for electron microscopy and shows the presence of empty
peroxisomes. The pathologist describes them as peroxisome “ghosts.” Which
of the following cellular activities should be decreased in the hepatocytes
from this patient?
a. Energy production
b. Plasmalogen synthesis
c. Exocytosis
d. Detoxification by the smooth endoplasmic reticulum
e. Lysosomal enzyme synthesis