Metabolic Flashcards
1
Q
Guachers disease
A
decreased levels of enzyme glucocerebrosidase
high acid phosphatase levels
hepatosplenomegaly
organ dysfunction
skeleteal deterioration
2
Q
Homocystinuria
A
high plasma homocysteine
lens dislocation - flashing lights
tall with long arm span
difficulties at school
3
Q
mucopolysaccharidoses type IV
A
short stubby fingers
short stature
corneal opacities
dysotosis multiplex on xrays
Ix: urinary glycosaminoglycans quantitation
4
Q
fat oxidation defect
A
low ketones
hypoglycaemia
raised ammonia
raised lactate
