Metabolic disorders & screening

Question 1

Choose the most appropriate answer from the list

• Peroxisomal disease
• Urea cycle defects
• Maple syrup urine disease
• Barth Syndrome
• Cystic Fibrosis
• Homocystinuria
• Medium chain acetyl-CoA dehydrogenase deficiency
• Glutaric aciduria type 1
• Glucoronyltransferase
• Phenylalanine
• Lysosomal storage diseases
• Kearns-Sayre disorder
• Phenylketonuria
• Congenital hypothyroidism
• Tandem mass spectroscopy
• MELAS

Arises due to a deficiency in phenylalanine hydroxylase.

Answer 1

Phenylketonuria

Question 2

Choose the most appropriate answer from the list

• Peroxisomal disease
• Urea cycle defects
• Maple syrup urine disease
• Barth Syndrome
• Cystic Fibrosis
• Homocystinuria
• Medium chain acetyl-CoA dehydrogenase deficiency
• Glutaric aciduria type 1
• Glucoronyltransferase
• Phenylalanine
• Lysosomal storage diseases
• Kearns-Sayre disorder
• Phenylketonuria
• Congenital hypothyroidism
• Tandem mass spectroscopy
• MELAS

With this fatty acid oxidation disorder, infants become hypoglycaemic between meals due to their inability to convert fats into fatty acids.

Answer 2

Medium chain acetyl-CoA dehydrogenase deficiency

Question 3

Choose the most appropriate answer from the list

• Peroxisomal disease
• Urea cycle defects
• Maple syrup urine disease
• Barth Syndrome
• Cystic Fibrosis
• Homocystinuria
• Medium chain acetyl-CoA dehydrogenase deficiency
• Glutaric aciduria type 1
• Glucoronyltransferase
• Phenylalanine
• Lysosomal storage diseases
• Kearns-Sayre disorder
• Phenylketonuria
• Congenital hypothyroidism
• Tandem mass spectroscopy
• MELAS

Characterised by encephalopathy, respiratory alkalosis, hyperammonaemia, irreversible neurological damage and vomiting without diarrhoea.

Answer 3

Urea cycle defects

Question 4

Choose the most appropriate answer from the list

• Peroxisomal disease
• Urea cycle defects
• Maple syrup urine disease
• Barth Syndrome
• Cystic Fibrosis
• Homocystinuria
• Medium chain acetyl-CoA dehydrogenase deficiency
• Glutaric aciduria type 1
• Glucoronyltransferase
• Phenylalanine
• Lysosomal storage diseases
• Kearns-Sayre disorder
• Phenylketonuria
• Congenital hypothyroidism
• Tandem mass spectroscopy
• MELAS

In neonates, these manifest with muscular hypotonia, seizures, hepatic dysfunction, mixed hyperbilirubinaemia and dysmorphia.

Answer 4

Lysosomal storage diseases

Question 5

Choose the most appropriate answer from the list

• Peroxisomal disease
• Urea cycle defects
• Maple syrup urine disease
• Barth Syndrome
• Cystic Fibrosis
• Homocystinuria
• Medium chain acetyl-CoA dehydrogenase deficiency
• Glutaric aciduria type 1
• Glucoronyltransferase
• Phenylalanine
• Lysosomal storage diseases
• Kearns-Sayre disorder
• Phenylketonuria
• Congenital hypothyroidism
• Tandem mass spectroscopy
• MELAS

A cause of stillbirth found exclusively in males, this disorder is associated with abnormal cardiolipin.

Answer 5

Barth Syndrome