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Society guideline links: Inborn errors of metabolism

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

International Union of Immunological Societies (IUIS): 2019 update on the classification of human inborn errors of immunity (published 2020)

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)

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)

Topic 120233 Version 7.0