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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly