Society guideline links: Inborn errors of metabolism

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

●Southeast Regional Genetics Network (SERN) and Genetic Metabolic Dietitians International (GMDI): Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) – An evidence- and consensus-based approach (2020)

●Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation (2020)

●SERN and GMDI: Nutrition management guideline for propionic acidemia – An evidence- and consensus-based approach (2019)

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 – [Decreased C0 and other acylcarnitines] Carnitine uptake defect (CUD)

●ACMG: Newborn screening ACT sheet – [Elevated C0/C16+C18] Carnitine palmitoyl transferase 1 deficiency (CPT1)

●ACMG: Newborn screening ACT sheet – [Elevated C3 acylcarnitine] Propionic acidemia and methylmalonic acidemia

●ACMG: Newborn screening ACT sheet – [Elevated C3-DC acylcarnitine] Malonic aciduria

●ACMG: Newborn screening ACT sheet – [Elevated C4 acylcarnitine] Short-chain acyl-CoA dehydrogenase (SCAD) deficiency

●ACMG: Newborn screening ACT sheet – [Elevated C4-OH acylcarnitine] 3-hydroxylacyl-coenzyme A dehydrogenase deficiency, medium/short chain acyl-CoA dehydrogenase (M/SCHAD) deficiency

●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 – [Elevated C8 with lesser elevations of C6 and C10 acylcarnitine] Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

●ACMG: Newborn screening ACT sheet – [Elevated C14:1 +/- other long-chain acylcarnitines] Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

●ACMG: Newborn screening ACT sheet – [Elevated C16 and/or C18:1 acylcarnitine] – Carnitine palmitoyltransferase 2 (CPT2) deficiency

●ACMG: Newborn screening ACT sheet – [Elevated C16-OH +/- C18 and other long chain acylcarnitines] Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

●ACMG: Newborn screening ACT sheet – [Elevated elevated C4 and C5 +/- other acylcarnitines] Glutaric aciduria type 2 (GA2)

●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)

●Southeast Regional Genetics Network (SERN) and Genetic Metabolic Dietitians International (GMDI): Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) – An evidence- and consensus-based approach (2020)

●SERN and GMDI: Nutrition management guideline for propionic acidemia – An evidence- and consensus-based approach (2019)

●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)

●Centers for Disease Control and Prevention (CDC): Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders – Recommendations and reports (2012)

●National Academy of Clinical Biochemistry (NACB): Laboratory medicine practice guidelines – Follow-up testing for metabolic diseases identified by expanded newborn screening using tandem mass spectrometry (2008)

United Kingdom

●British Inherited Metabolic Diseases Group (BIMDG): Newborn screening guidelines – Glutaric aciduria type 1 (GA1)

●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)