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NBS Guidelines

Please see below the diagnostic and emergency guidelines for each of the newborn screening IMDs.

General links

NBS - Parent info Leaflets

NBS - Supporting document

Notification of clinically identified IMD (not picked up by NBS) form

Hereditary Tyrosinaemia Type 1

Added to NBS screening in NHS England Summer 2025 (devolved nations to follow).

HT1 Dietetic Management

HT1 Clinical Mgt Guidelines

Maple Syrup Urine Disease (MSUD)

Management Guideline

Emergency Regimen

Dietetic Management Pathway

Glutaric Aciduria Type 1

Management Guideline

Dietetic Management Pathway

Homocystinuria

Management Guideline

Dietetic Management Pathway

Isovaleric Aciduria

Management Guideline

Dietetic Management Pathway

Phenylketonuria

Management Guideline

Other Disorder Suspected Pathway

MCADD

Management Guideline

Dietetic Management Pathway