Chempath 6: Metabolic disorders and screening 2 Flashcards
1
Q
A neonate presents with cataracts, conjugated bilirubinaemia, hepatomegaly after starting milk feeds.
Most likely metabolic disease ?
A
Galactosaemia
2
Q
A positive Fehling’s and Benedict’s test in the absence of glucose in the urine suggests …………….
A
Glacatosaemia
These tests detect reducing sugars in the urine.
3
Q
A baby born in Quebec Canada presents with bloody stool, failure to thrive, jaundice, hepatomegaly and a cabbage like odour.
What is the most likely diagnosis ?
A
Tyrosinaemia (type 1)
treated by restricting tyramine in the diet (soft cheese etc)
4
Q
A neonate presents with signs of a non-infective encephalopathy, failure to thrive and hyperventilation. The consultant suggests that Protein may be the trigger.
Most likely diagnosis ?
A
Urea cycle disorders
