Clinical expertise

Dr Helen Mundy is a paediatric consultant in inherited metabolic diseases with a sub-specialty in glycogen storage diseases and complex ketotic hypoglycaemia.

She regularly treats patients with conditions such as:

  • glycogen storage diseases
  • complex hypoglycaemia
  • organic acidaemia
  • inherited white matter diseases
  • other intermediary metabolism defects

She performs treatments such as:

  • investigations of suspected metabolic diseases
  • metabolic profiling and intervention for sugar abnormalities
  • emergency treatment and stabilisation for metabolic liver transplant

Our metabolic specialists transform two brothers' lives

Dr Helen Mundy led a multidisciplinary team of paediatric metabolic specialists to dramatically improve the health prospects of Abdullah and his younger brother Fahad from Kuwait, who were diagnosed with Fanconi-Bickel syndrome.

The team successfully trialled the use of an adult diabetes medication, demonstrating for the first time that it could work in children with the syndrome. 

Evelina London brothers from Kuwait with Fanconi-Bickel syndrome

Biography

Dr Helen Mundy has practised as a consultant at Evelina London Children’s Hospital since 2008. She is the current clinical lead for the metabolic disease service.

She trained in inherited metabolic diseases in London and completed 4 years research in the treatment of glycogen storages diseases.


Research

As the Evelina metabolic lead for the quaternary inherited white matter disease service, she has over 50 publications on inherited metabolic diseases.

She was the chief investigator for the multinational glyde trial to demonstrate its improved efficacy, and is the current monitor for the gene therapy trial for GSD. On completion of her research, was the introduction of the modified starch glycosade.