Inborn Errors & Lysosomal Storage Diseases — Practice

Question 1

Why are children with untreated phenylketonuria characteristically fair-skinned and fair-haired?

Accepted Answer

B

Question 2

Which two lysosomal storage diseases are X-linked?

Accepted Answer

B

Question 3

A child with glycogen storage disease has fasting hypoglycaemia and hepatomegaly but a NORMAL blood lactate. Which type is this?

Accepted Answer

C

Question 4

A neonate collapses on day 3 with a plasma ammonia of 600 micromol/L, a respiratory alkalosis and no metabolic acidosis. Which group of disorders is most likely?

Accepted Answer

A

Question 5

A tall young man with long limbs has downward lens dislocation, mild intellectual disability and a history of deep vein thrombosis. What is the diagnosis?

Accepted Answer

B

Question 6

Why is the hypoglycaemia of hereditary fructose intolerance refractory to both glycogenolysis and gluconeogenesis?

Accepted Answer

B

Question 7

A child has coarse facies, corneal clouding, gingival hyperplasia and restricted joint movement. Plasma lysosomal enzyme levels are markedly ELEVATED. What is the diagnosis?

Accepted Answer

C

Question 8

A child has orotic aciduria and a megaloblastic anaemia, with a normal plasma ammonia. What is the diagnosis and treatment?

Accepted Answer

B

Question 9

A 5-month-old has developmental regression, an exaggerated startle response and a cherry-red macula. Abdominal examination is entirely normal. Which finding best supports Tay-Sachs disease over Niemann-Pick disease?

Accepted Answer

B

Practice — Inborn Errors & Lysosomal Storage Diseases

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