Term
| What two molecules make up ceramide? |
|
Definition
| sphingosine and fatty acid |
|
|
Term
| What element is added to ceramide to make it a sphingomyelin? |
|
Definition
|
|
Term
| What is added to ceramide to make cerebroside? |
|
Definition
|
|
Term
| What is added to ceramide to make gangliosidase? |
|
Definition
|
|
Term
| What enzyme is deficient in GM1 gangliosidosis? |
|
Definition
|
|
Term
| What lysosomal storage disease is due to deficency in hexosaminidase A only? |
|
Definition
|
|
Term
| What part of Hexosaminidase is mutated in Sandoff Disease? |
|
Definition
| the B subunit b/c Hex A is ab and Hex B is BB |
|
|
Term
| What happens to the levels of Hex A and Hex B in Tay Sachs? |
|
Definition
| hex A goes down, hex B goes up |
|
|
Term
| What disease is due to a deficiency in arylsufatidase A? |
|
Definition
| Metachromatic leukodystrophy |
|
|
Term
| What is the enzyme deficiency in Krabbe? |
|
Definition
|
|
Term
| What enzyme is deficient in Niemann Pick? |
|
Definition
|
|
Term
| What disorder is due to a deficiency in B-glucosidase? |
|
Definition
|
|
Term
| What molecule builds up in Krabbe disease? |
|
Definition
|
|
Term
| What does psycosine inhibit? |
|
Definition
|
|
Term
| What molecule builds up in Sandoff? |
|
Definition
|
|
Term
| What molecule builds up in Gaucher? |
|
Definition
|
|
Term
| What molecule builds up in metachromatic leukodystrophy? |
|
Definition
|
|
Term
| What is the inheritance pattern of all the lysosomal storage diseases except fabrys? |
|
Definition
|
|
Term
| What cell does GM1 gangliosidosis accumulate its backed up product into? |
|
Definition
|
|
Term
| Which lysosomal storage diseases have build up of molecule in a neuron and a macrophage? (3) |
|
Definition
sandoff
type A niemann pick
metachromatic leukodystrophy |
|
|
Term
| What particular cell in the eye does the lysosomal storage occur in Tay Sachs? |
|
Definition
| ganglion cell of the retina |
|
|
Term
| What disease presents with widening of the long bones and cherry red spot in an infant? |
|
Definition
|
|
Term
| What lysosomal storage disease can result in ganglion cells in the intestine? |
|
Definition
|
|
Term
| WHen does GM1 gangliosidosis present in the patient? |
|
Definition
|
|
Term
| What is the difference between Sandoff and Tay Sachs with regard to clinical presentation? |
|
Definition
| Sandoff will have organomegaly in addition to the clinical findings of Tay Sachs |
|
|
Term
| What three ethnic groups is Tay Sachs common in? |
|
Definition
Eastern Europeans
Ashkenazis
French Canadian |
|
|
Term
| What two lysosomal disorders are common in Ashkenazis? |
|
Definition
|
|
Term
| Which ethnic groups is Sandoff common in? |
|
Definition
| trick question: no ethnic group |
|
|
Term
| What three lysosomal disorders present with cherry red spots? |
|
Definition
GM1 gangliosidosis
Tay Sachs
Neimann Pick |
|
|
Term
| What disease presents with megencephaly? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| What disease presents with hyperacusis? |
|
Definition
|
|
Term
| What is the characteristic cell of Gaucher (in other words describe the Gaucher cell)? |
|
Definition
| a macrophage (histocyte) with wrinkled tissue paper type cytoplasm and an eccentric nucleus |
|
|
Term
| Which disease shows membrane bound tubules in EM? |
|
Definition
|
|
Term
| In adult type Gaucher, what organs are typically involved? |
|
Definition
spleen and liver
NOT THE CNS |
|
|
Term
| Which lysosomal storage disorder presents with no CNS involvment? |
|
Definition
|
|
Term
| What is the different between adult and infantile type gaucher other than age? |
|
Definition
| infantile presents with CNS involvement whereas adult type typically doesn't |
|
|
Term
| What disease can present with lytic bone lesions? |
|
Definition
|
|
Term
| What diseases present with myelin like inclusions on EM that look like an onion? |
|
Definition
| Tay Sachs and Niemann Pick |
|
|
Term
| What disesae presents with lamellar inclusions? |
|
Definition
| Metachromatic leukodystrophy |
|
|
Term
| What part of the white matter does metachromatic leukodystrophy spare? |
|
Definition
|
|
Term
| What disease presents with bubbly sea blue macrophages on LM? |
|
Definition
|
|
Term
| What are the motor symptoms of Metachromatic Leukodystrophy? (3) |
|
Definition
hypotonia
weakness
gait disturbance |
|
|
Term
| What is meganeurites and what disease presents with it? |
|
Definition
| it is swollen neurons with foamy cytoplasm and Tay Sachs has it |
|
|
Term
| Which lysosomal storage disease has better prognosis? |
|
Definition
|
|
Term
| What disease presents with motor symptoms and peripheral neuropathy? |
|
Definition
| Metachromatic Leukodystrophy |
|
|
Term
| What disease presents with a fever, psychomotor retardation in a progressive manner? |
|
Definition
|
|
Term
| What disease has globoid cells and where are they found in histologic section? |
|
Definition
| Krabbe has globoid cells and they are found around blood vessels |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Metachromatic Leukodystrophy. These are gitter cells w/ metachormatic stain |
|
|
Term
What is the DX? Focus on C.
[image] |
|
Definition
| metachromatic leukodystrophy with lamellar inclusions in this EM sample. |
|
|
Term
What is the DX? Look closely.
[image] |
|
Definition
| Niemann Pick with bubbly sea blue macs |
|
|
Term
What is the DX? What are the cells labeled by the arrow called?
[image] |
|
Definition
| it is Krabbe and the cells are glomoid cells |
|
|
Term
| What lysosomal storage disease accumulates in the astrocyte and neuron? |
|
Definition
|
|
