inherited metabolic diseases

Question 1

what is a guthrie card used for ?

Answer 1

blood spot screening in egypt is used to test and screen for PKU and hypothyroidism 
in the UK :
MCADD 
CF 
SCD 
PKU 
congenital hypothyroidism

Question 2

what is the genetic inheritance associated with PKU ?

Answer 2

autosomal recessive

Question 3

what is the cause of PKU ?

Answer 3

deficiency of phenylalanine hydroxylase enzyme

Question 4

what are the effects of untreated PKU ?

Answer 4

severe intellectual disability 
behavioural difficulties 
seizures 
lack of pigmentation 
eczema and atopic dermatitis 
musty or mousy odor

Question 5

what would a brain MRI associated with PKU show ?

Answer 5

demyelination areas of demyelination

Question 6

how is a diagnosis of PKU made ?

Answer 6

elevated phenylalanine and a deficiency of tyrosine

guthrie test

Question 7

what are the general treatment methods or approaches associated with PKU ?

Answer 7

substrate reduction therapy
enzyme enhancement therapy
enzyme replacement therapy
large neutral amino acids

Question 8

what are the associated results of early intervention in PKU with substrate reduction ?

Answer 8

if the PHE level is kept below 400 in early childhood IQ remains near normal

Question 9

what is the correlation between an increase in PHE and IQ levels in children

Answer 9

each increase by 300 mcmol in PHE
IQ decreases by 0.5 SD
After the age of 10 IQ remains stable

Question 10

what are the indications associated with a PKU diet ?

Answer 10

low protein diet

protein exchanges

Question 11

what are protein exchange foods ?

Answer 11

equivalent to 1 g of protein or 50 mg of PHE

Question 12

how is enzyme supplementation therpay achieved in PKU ?

Answer 12

1. Sapropterin supplementation , which is a cofactor for PAH
   Used in conjunction with low PHE diet

Question 13

how is an nalternative route of metabolism achieved in the treatment of PKU ?

Answer 13

palynziq is used in the form of SC injections

Question 14

how are large neutral amino acids used in the treatment of PKU ?

Answer 14

competitive inhibition of the uptake of PHE through the BBB , so the negative effects imposed on the brainn are reduced

Question 15

what are the different examples of lysosomal storage diseases ?

Answer 15

Gaucher disease
MPS I - Hurler
MPS IV - Morique

Question 16

what is the method of inheritance associated with lysosomal storage diseases ?

Answer 16

autosomal recessive

Question 17

what is the course of lysosomal storage diseases ?

Answer 17

progressive course

Question 18

what is the presentation of gaucher disease ?

Answer 18

painless splenomegaly, anemia, or thrombocytopenia

Question 19

what is the presentation of MPS I ?

Answer 19

hurler
coarse face
corneal clouding

Question 20

what is the presentation in MPS IV ?

Answer 20

anterior beaking of vertebrae
scoliosis
kyphosis

Question 21

what is Pompe disease ?

Answer 21

a type of glycogen storage disease ( GSD type 1)

Question 22

which enzyme is deficient in Pompe disease ?

Answer 22

alpha glucosidase deficiency also named AMD

Question 23

how is pompe disease treated ?

Answer 23

using enzyme replacement therapy ( replacement through GAA)

Question 24

what is the presentation of Pompe disease ?

Answer 24

pelvis muscle weakness
scapular winging
FTT
weak muscles

Question 25

what is the enzyme replacement therapy for each of these diseases :
Gaucher 
Fabry 
MPS I 
MPS VI 
GSD II

Answer 25

gaucher - cerezyme 
Fabry - fabrazyme 
MPS I - aldurazyme 
MPS VI - Naglazyme 
GSD II - Myozyme