Adult emergency advice

All | A F G H L M P U
A

Adrenoleukodystrophy - Adrenal insufficiency - Addisonian-type crisis

F

Fructose 1,6-bisphosphatase deficiency

G

Glutaric Aciduria Type I

Glycogen Storage Disease Type III

Glycogen Storage Disorder Type 1b

H

HMG CoA Lyase Deficiency - (also known as 3-hydroxy-3-methyl glutaryl CoA lyase deficiency)

Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH syndrome)

L

Long Chain Fatty Acid Oxidation Defects (VLCADD, LCHAD, CPT2, CACT, MADD)

M

Maple Syrup Urine Disease (MSUD)

McArdle disease (Glycogen storage disease type V)

Medium Chain Fat Oxidation Disorders (MCADD, HMG Synthase, CPT1 deficiency)

Methylmalonic Acidaemia (MMA)

P

Porphyria (Acute Intermittent Porphyria [AIP], Variegate Porphyria [VP], Hereditary Coproporphyria [HCP]))

Propionic Acidaemia (PA) - Propionyl CoA carboxylase deficiency

U

Urea Cycle Defects (OTC, CPS1, Citrullinaemia [ASS deficiency], Arginosuccinic aciduria [ASL], Arginase deficiency, NAGS 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.