Metabolic, urea,

Question 1

phenylacetic acid in urine

Answer 1

Phenylketonuria

Question 2

Lens dislocation
Mental retardation
Thromboembolism

Answer 2

Homocysteinuria

Question 3

E.coli sepsis
Conjugated jaundice
Vomiting, diarrhoea, hepatomegaly

Answer 3

Galactosaemia

Question 4

Hyperammonia + Metabolic acidosis

Answer 4

Organic aciduria

Isovaleric acidaemia

Question 5

Gal-1-PUT

Answer 5

Galactosaemia

Question 6

Lactic acidosis
Hypoglycaemia
Neutropenia
Hepatomegaly

Answer 6

GSD 1 (von Gierke’s)

Question 7

Glucose 6 phosphatase deficiency

Answer 7

GSD 1 (von Gierke’s)

Question 8

Fasting lactate higher than the fed lactate

Answer 8

Mitochondrial disease

Question 9

Severe muscular hypotonia

Answer 9

Peroxisomal disorders

Lab: very long chain fatty acids

Question 10

Phenylketonuria

Answer 10

phenylacetic acid in urine

Question 11

Homocysteinuria

Answer 11

Lens dislocation
Mental retardation
Thromboembolism

Question 12

Galactosaemia

Answer 12

E.coli sepsis
Conjugated jaundice
Vomiting, diarrhoea, hepatomegaly

Question 13

Organic aciduria

Isovaleric acidaemia

Answer 13

Hyperammonia + Metabolic acidosis

Question 14

Galactosaemia

Answer 14

Gal-1-PUT

Question 15

GSD 1 (von Gierke’s)

Answer 15

Lactic acidosis
Hypoglycaemia
Neutropenia
Hepatomegaly

Question 16

GSD 1 (von Gierke’s)

Answer 16

Glucose 6 phosphatase deficiency

Question 17

Mitochondrial disease

Answer 17

Fasting lactate higher than the fed lactate

Question 18

Peroxisomal disorders

Lab: very long chain fatty acids

Answer 18

Severe muscular hypotonia