Introduction — This topic includes links to society and government-sponsored guidelines from selected countries and regions around the world. We will update these links periodically; newer versions of some guidelines may be available on each society's website. Some societies may require users to log in to access their guidelines.
The recommendations in the following guidelines may vary from those that appear in UpToDate topic reviews. Readers who are looking for UpToDate topic reviews should use the UpToDate search box to find the relevant content.
Links to related guidelines are provided separately:
●(See "Society guideline links: Phenylketonuria".)
●(See "Society guideline links: Maple syrup urine disease".)
●(See "Society guideline links: Mucopolysaccharidoses".)
●(See "Society guideline links: Urea cycle disorders".)
International
United States
●American College of Medical Genetics and Genomics (ACMG): Algorithm – Arginine elevated
●ACMG: Algorithm – Biotinidase deficiency
●ACMG: Algorithm – C0 elevated; C0/C16+C18 elevated
●ACMG: Algorithm – C0 (free carnitine) low
●ACMG: Algorithm – C3 elevated (isolated)
●ACMG: Algorithm – C4 and C5 +/- other acylcarnitines elevated
●ACMG: Algorithm – C4 elevated (isolated)
●ACMG: Algorithm – C4-OH elevated
●ACMG: Algorithm – C4-OH elevated (screening lab not measuring C5-OH and C5:1)
●ACMG: Algorithm – C5-DC elevated (isolated)
●ACMG: Algorithm – C5 elevated (isolated)
●ACMG: Algorithm – C5-OH elevated
●ACMG: Algorithm – C8 elevated + lesser elevations of C6 and C10
●ACMG: Algorithm – C14:1 elevated +/- other long-chain acylcarnitines
●ACMG: Algorithm – C16 and/or C18:1 elevated
●ACMG: Algorithm – C16-OH elevated +/- C18 and other long-chain acylcarnitine species
●ACMG: Algorithm – Elevated C3-DC (isolated)
●ACMG: Algorithm – Methionine elevated or decreased
●ACMG: Algorithm – Tyrosine elevated, succinylacetone normal
●ACMG: Algorithm – Tyrosine normal/elevated, succinylacetone elevated
●ACMG: Newborn screening ACT sheet – [Absent/reduced biotinidase activity] Biotinidase deficiency
●ACMG: Newborn screening ACT sheet – [Elevated C3-DC acylcarnitine] Malonic aciduria
●ACMG: Newborn screening ACT sheet – [Elevated C5 acylcarnitine] Isovaleric acidemia
●ACMG: Newborn screening ACT sheet – [Elevated C5-OH acylcarnitine] Organic acidemias
●ACMG: Newborn screening ACT sheet – [Increased methionine] Homocystinuria (CBS deficiency)
●ACMG: Newborn screening ACT sheet – [Increased tyrosine] Tyrosinemia
●ACMG: Transition to adult health care ACT sheet – Homocystinuria (CBS deficiency)
●ACMG: A technical standard on laboratory analysis of amino acids, revised (2018)
●ACMG: A technical standard on laboratory analysis of organic acids, update (2018)
●ACMG: A technical standard and guideline on laboratory diagnosis of biotinidase deficiency, update (2017)
United Kingdom
●BIMDG: Newborn screening guidelines – Homocystinuria
●BIMDG: Newborn screening guidelines – Isovaleric aciduria (IVA)
●BIMDG: Newborn screening guidelines – Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Japan
●[In Japanese] Japan Pediatric Society (JPS): Diagnosis and treatment guidelines for carnitine deficiency (2018)
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