Sheffield Childrens NHS Foundation Trust

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We are one of just four specialist NHS Trusts for children in the UK.

Inside the Newborn Screening Lab

Metabolic Medicine

Welcome to Metabolic Medicine where we see children with a range of metabolic conditions.

A metabolic condition is when abnormal chemical reactions in your body disrupt the process of making energy from food.

We see our patients in outpatient clinics at the hospital and treat them on our wards, in daycare or on the Intensive Care Unit if necessary.

We work closely with colleagues in Metabolic Biochemistry who carry out testing in order to detect and monitor metabolic disorders.

Conditions we treat

Some of the conditions we treat are very rare and complex.

  • Aminoacidopathies including: Phenylketonuria, maple syrup urine disease, homocystinuria, non-ketotic hyperglycinaemia
  • Urea cycle disorders
  • Organic acidaemias, including Propionic, methylmalonic and isovaleric acidaemias
  • Fatty acid oxidation disorders, including MCAD deficiency
  • Long chain and carnitine disorders
  • Carbohydrate disorders, including glycogen storage diseases, galactosaemia
  • Lipid disorders, including hypercholesterolemia, hypertriglyceridaemia
  • Peroxisomal disorders, including X-linked adrenoleukodystrophy
  • Mitochondrial disorders and inherited vitamin response disorders


Outpatient services are provided at the Children’s Hospital, Sheffield with separate clinics for phenylketonuria (monthly), lipid disorders (quarterly) and metabolic disorders (weekly).

Specialist nursing for phenylketonuria and newly diagnosed MCAD deficiency in the newborn is provided by the Trent Regional Newborn Screening Service by Gillian Race and AnnMarie Casbolt.

This is provided with specialist nursing sometimes within the patient’s home.

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