Inborn errors of metabolism

Question 1

6 IEMs in newborn blood test

Answer 1

• Phenylketonuria
• Medium-chain acyl-CoA dehydrogenase deficiency
• Maple syrup urine disease
• Isovaleric acidaemia
• Glutaric aciduria type 1
• Homocystinuria

Question 2

Phenylketonuria

Answer 2

Can’t break down phenylalanine
Build up = brain damage
Vomiting, eczema, epilepsy, jerking movements

Question 3

Medium chain acyl-CoA dehydrogenase deficiency

Answer 3

can’t break down fat to release energy
Episodic hypoglycaemia at times of stress/fasting
Sx: vomiting, seizures, poor feeding

Question 4

Maple syrup urine disease

Answer 4

Unable to break down leucine, isoleucine and valine = sweet smelling urine and sweat
Sx: seizures, coma, brain damage, developmental delay

Question 5

Isovaleric acidaemia

Answer 5

Can’t process leucine
Smell like sweaty feet
Weight loss and loss of appetite
Metabolic crises

Question 6

Glutaric acuduria t1

Answer 6

Unable to break down lysine, hydroxylysine and typtophan

Sx: macrocephaly, hypotonia, subdural haematoma

Question 7

Homocystinuria

Answer 7

Cn’t process methionine

Sx: vision problems, weak bones, risk of blood clots and strokes, good prognosis with diagnosis and treatment