inherited metabolic disorders

Question 1

when do most inherited metabolic disorders present

or discovered

Answer 1

present in childhood

some inherited metabolic disorders are screened for in neonates

Question 2

what dose a metabolic disorder usually cause

Answer 2

absent enzyme activity
reduced enzyme production

intoxication, energy metabolism

Question 3

how common are inherited metabolic disease

Answer 3

individually rare but collectively not uncommon

Question 4

are inherited metabolic disorders treatable

Answer 4

many of them yes

Question 5

if there is a problem with enzyme secretion this can lead to a

Answer 5

Decreased formation of the product

Accumulation of the substrate

Increased formation of other metabolites

Question 6

what are most inherited metabolic disorders

heterozygotes are …

Answer 6

autosomal recessive inheritance

phenotypically normal

Question 7

what are urea cycle defects

Answer 7

problems dealing with ecess glutamate and nitrogen

Rare group of inherited metabolic disorders

Question 8

what is the most common urea cycle defect

Answer 8

ornithine transcarbamoylase (OTC) deficiency

1 in 40,000 births

Question 9

what are the characteristics of OTC difficency

Answer 9

X-linked inheritance

hyperammonaemia

ACCUTE MEDICAL EMERGENCY

Question 10

what are amino acid disorders

example

Answer 10

disorders that effect the amino acids

an example is PKU

Question 11

what is PKU

Answer 11

Autosomal recessive disorder

Autosomal recessive disorder

Associated with increased phenylalanine (Phe) levels (toxic)

1 in 10,000 live births

Question 12

what is the diagnosis of PUK

Answer 12

Neonatal screening programme (carried out on day 5)

Question 13

what is the treatment of PKU

Answer 13

Treatable condition – Reduced protein diet supplemented with tyrosine

Question 14

what is the prognosis of PKU if left untreated

Answer 14

Untreated individuals exhibit signs of impaired brain development