inherited metabolic disorders Flashcards
when do most inherited metabolic disorders present
or discovered
present in childhood
some inherited metabolic disorders are screened for in neonates
what dose a metabolic disorder usually cause
absent enzyme activity
reduced enzyme production
intoxication, energy metabolism
how common are inherited metabolic disease
individually rare but collectively not uncommon
are inherited metabolic disorders treatable
many of them yes
if there is a problem with enzyme secretion this can lead to a
Decreased formation of the product
Accumulation of the substrate
Increased formation of other metabolites
what are most inherited metabolic disorders
heterozygotes are …
autosomal recessive inheritance
phenotypically normal
what are urea cycle defects
problems dealing with ecess glutamate and nitrogen
Rare group of inherited metabolic disorders
what is the most common urea cycle defect
ornithine transcarbamoylase (OTC) deficiency
1 in 40,000 births
what are the characteristics of OTC difficency
X-linked inheritance
hyperammonaemia
ACCUTE MEDICAL EMERGENCY
what are amino acid disorders
example
disorders that effect the amino acids
an example is PKU
what is PKU
Autosomal recessive disorder
Autosomal recessive disorder
Associated with increased phenylalanine (Phe) levels (toxic)
1 in 10,000 live births
what is the diagnosis of PUK
Neonatal screening programme (carried out on day 5)
what is the treatment of PKU
Treatable condition – Reduced protein diet supplemented with tyrosine
what is the prognosis of PKU if left untreated
Untreated individuals exhibit signs of impaired brain development
