Adult guidelines

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Adrenoleukodystrophy - Adrenal insufficiency - Addisonian-type crisis

Fructose 1,6-bisphosphatase deficiency

Oral , IV

Glutaric Aciduria Type I - Adult Emergency Management

Glycogen Storage Disease Type III - Adult Emergency Management

Glycogen Storage Disorder Type 1b

Oral , IV

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

Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH syndrome)

Long Chain Fatty Acid Oxidation Defects (VLCAD, LCHAD, CPT2, CACT, MAD)

Maple Syrup Urine Disease (MSUD) - branched chain amino acids (Leucine, Isoleucine, Valine)

McArdle disease (Glycogen storage disease type V)

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

Methylmalonic Acidaemia (MMA) - Adult Emergency Management

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

Propionic Acidaemia (PA) - Propionyl CoA carboxylase deficiency

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