GENETIC DISEASES WITH MORPHOLOGIC FINDINGS Esin

Question 1

autosomal recessive disease of galactose metabolism lack of the GALT
enzyme ?

Answer 1

GALACTOSEMIA

Question 2

what are clinical features of galactosemia?

Answer 2

-failure of baby to thrive and grow
-vomiting and diarrhea with ingestion of milk
-jaundice & hepatomegaly during 1st week
-E.coli sepsis

Question 3

what happens when galactose (from lactose) is omitted from a baby’s diet during first 2 yrs to suppress galactosemia?

Answer 3

speech disorder and gonadal failure (especially premature ovarian
failure) and, less commonly, by an ataxic condition.

Question 4

in which organs does galactilol accumulate in galactosemia?

Answer 4

resulting in galactilol accumulate in liver, spleen, lens of the eye, kidney, cerebral cortex brain?

Question 5

………………..are inborn errors of metabolism characterized by the accumulation of substrates in excess in various organs’ cells due to the defective functioning of lysosomes.

Answer 5

Lysosomal storage diseases (LSDs)

Question 6

***which type of Neimann-Pick disease doesn’t involve neurologic involvement?

Answer 6

Neimann-pick type B

Question 7

which type of Gaucher does not have neurologic impairments and which has?

Answer 7

Gaucher disease type I, which does not have neurologic involvement, and
types II and III, the so-called neuronopathic forms which both feature neurologic impairment.

Question 8

A non-neuronopathic LSD is Type 1 Gaucher disease (β-glucocerebrosidase deficiency), which is common within the Ashkenazi Jewish community. The major cell type affected by glucosylceramide storage in this disease is the …………..whose dysfunction affects the production and turnover of cells belonging to the hematopoietic system. Gaucher cells infiltrate into various organs and affect the immune system, bone strength, spleen, and liver function

Answer 8

macrophage (“Gaucher cells”),

Question 9

in which type of lysosomal storage disorders does cherry red spots appear on the retina?

Answer 9

TAY-SACHS DISEASE=GM2 GANLIOSIDOSIS

Question 10

what are examples of lysosomal storage diseases?

Answer 10

Tay-Sachs Disease
Niemann-Pick Disease Type A&B
Gaucher Disease
Mucopolysaccharidoses
(+pompe disease)

Question 11

………….:*Primary deficiency of acid sphingomyelinase
→ accumulation of sphingomyelin in Macrophage phagocytic system and neurons
–> presents with Zebra bodies (engorged secondary lysosomes)

Answer 11

NIEMANN-PICK DISEASE

Question 12

……………..:characterized by defective degradation & excessive storage of Mucopolysaccharides

Answer 12

MUCOPOLYSACCHARIDOSES

Question 13

which type of lysosomal storage disease presents with
skeletal deformities
Clouding of cornea,
joint stiffness
mental retardation
increased urinary excretion of Mucopolysaccharides?

Answer 13

MUCOPOLYSACCHARIDOSES

Question 14

Hunter disease is which type of genetic mutation?

Answer 14

X-linked recessive

Question 15

which type of disease presents with hypoglycemic baby?

Answer 15

glycogen storage disease

Question 16

only ………. is a lysosomal storage disease (relating to glycogen storage disease)

Answer 16

Pompe disease