Title

A UK survey of the Molybdenum Cofactor deficiencies

Please download and complete the questionnaire for this project HERE

Lead Clinician

Dr Karen Horridge
Paediatric department, Sunderland Royal Hospital
Kayll Road
Sunderland SR4 7TP
Tel :

Disease name

Molybdenum Cofactor deficiencies

Case Definition

All laboratory-confirmed cases of any of the Molybdenum Cofactor deficiencies

Inclusion Criteria

All laboratory-confirmed cases of:

• combined Molybdenum Cofactor deficiency
• Sulfite Oxidase deficiency

Exclusion Criteria

Alternative diagnosis confirmed