Paediatric emergency advice

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Glycerol Kinase Deficiency (isolated, same as Ketotic Hypoglycaemia)
***IMPORTANT NOTE: some children have glycerol kinase deficiency as part of a contiguous gene deletion causing in addition congenital adrenal hypoplasia and muscular dystrophy. These patients require different emergency management to take account of their endocrine dysfunction.*** Standard , A&E , Child dietary emergency regimen , Making intravenous fluids for metabolic patients ,

Glycogen Storage Disease Type 1a (GSD Type 1A, Glucose-6-phosphatase deficiency)

Glycogen storage disease Type 1b (GSD1b, Glucose-6-phosphate translocase deficiency)


Disclaimer:

BIMDG emergency advice documents are produced for registered healthcare professionals. Inherited metabolic disease often has a limited evidence base; recommendations reflect what we believe to be current best practice in the United Kingdom at the date shown. The documents are carefully peer‑reviewed, but errors or omissions may remain and emerging evidence may change recommendations. They are for general guidance only; they do not replace the clinician’s judgement, local policies or individual patient discussions and consent.

Always use the latest version and verify all medicines information (including doses, contraindications and interactions) against current product literature. Responsibility for diagnosis, decisions and care rests with the treating clinician and provider organisation. These documents are developed for the UK context; no guidance is given on use outside the United Kingdom.

To the fullest extent permitted by law, BIMDG and the authors accept no responsibility for loss arising from reliance on the content of these documents.