Inborn Errors of Metabolism

Overview of inherited metabolic disorders.

Reviewed by Dr Kola Tytler MBBS CertHE MBA MRCGP (General Practitioner)

Last reviewed: 21 October 2025

GeneticsPaediatricsBiochemistry

Clinical Guidelines

A Delphi-based consensus clinical practice protocol for the diagnosis and management of the most common inborn errors of metabolism identified on expanded newborn screening

Clinical Practice Guidelines: Metabolic disorders (Royal Children's Hospital Melbourne)

Consensus guidelines for management of hyperammonaemia in paediatric and adult patients

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Evaluation of the child with global developmental delay and intellectual disability

Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement

Consensus guidelines for management of hyperammonaemia in paediatric and adult patients

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders (CDC MMWR Recommendations and Reports, 2012)

Inborn Errors of Metabolism That Use Dietary Management: Considerations for Optimizing and Standardizing Diet in Clinical Trials for Drug Product Development (FDA Guidance for Industry, July 2023)

International consensus recommendations for management of new-onset refractory status epilepticus

Newborn Screening for Phenylketonuria: Latin American Consensus Guidelines

Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach

Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency: An evidence- and consensus-based approach

Phenylalanine hydroxylase deficiency: diagnosis and management clinical practice guideline of the American College of Medical Genetics and Genomics (ACMG)