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Inborn disorder of pyridoxine metabolism

MedGen UID:
1842882
•Concept ID:
C5681285
•
Disease or Syndrome
Synonyms: disorder of pyridoxine metabolism; Disorder of pyridoxine metabolism; inborn disorder of pyridoxine metabolism; inborn error of pyridoxine metabolic process; inborn pyridoxine metabolic process disorder; rare inborn error of pyridoxine metabolic process
 
Monarch Initiative: MONDO:0019237
Orphanet: ORPHA79192

Definition

An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn disorder of pyridoxine metabolism

Professional guidelines

PubMed

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM
J Inherit Metab Dis 2021 Jan;44(1):178-192. Epub 2020 Dec 1 doi: 10.1002/jimd.12332. PMID: 33200442
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
Whyte MP
Nat Rev Endocrinol 2016 Apr;12(4):233-46. Epub 2016 Feb 19 doi: 10.1038/nrendo.2016.14. PMID: 26893260
Recent advances in the early detection and treatment of inborn errors with brain damage.
Bickel H
Neuropadiatrie 1969 Jun-Jul;1(1):1-11. doi: 10.1055/s-0028-1091859. PMID: 4942066

Recent clinical studies

Etiology

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM
J Inherit Metab Dis 2021 Jan;44(1):178-192. Epub 2020 Dec 1 doi: 10.1002/jimd.12332. PMID: 33200442
Disorders affecting vitamin B(6) metabolism.
Wilson MP, Plecko B, Mills PB, Clayton PT
J Inherit Metab Dis 2019 Jul;42(4):629-646. Epub 2019 Mar 20 doi: 10.1002/jimd.12060. PMID: 30671974
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
Whyte MP
Nat Rev Endocrinol 2016 Apr;12(4):233-46. Epub 2016 Feb 19 doi: 10.1038/nrendo.2016.14. PMID: 26893260
Infantile spasms.
Zupanc ML
Expert Opin Pharmacother 2003 Nov;4(11):2039-48. doi: 10.1517/14656566.4.11.2039. PMID: 14596657
Vitamin-responsive inborn errors of metabolism.
Bartlett K
Adv Clin Chem 1983;23:141-98. doi: 10.1016/s0065-2423(08)60400-x. PMID: 6152513

Diagnosis

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM
J Inherit Metab Dis 2021 Jan;44(1):178-192. Epub 2020 Dec 1 doi: 10.1002/jimd.12332. PMID: 33200442
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
Whyte MP
Nat Rev Endocrinol 2016 Apr;12(4):233-46. Epub 2016 Feb 19 doi: 10.1038/nrendo.2016.14. PMID: 26893260
Neonatal seizures.
Painter MJ, Bergman I, Crumrine P
Pediatr Clin North Am 1986 Feb;33(1):91-109. doi: 10.1016/s0031-3955(16)34971-9. PMID: 3513103
Dietary treatment of inborn errors of metabolism.
Holtzman NA
Annu Rev Med 1970;21:335-56. doi: 10.1146/annurev.me.21.020170.002003. PMID: 4193735
Recent advances in the early detection and treatment of inborn errors with brain damage.
Bickel H
Neuropadiatrie 1969 Jun-Jul;1(1):1-11. doi: 10.1055/s-0028-1091859. PMID: 4942066

Therapy

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM
J Inherit Metab Dis 2021 Jan;44(1):178-192. Epub 2020 Dec 1 doi: 10.1002/jimd.12332. PMID: 33200442
Disorders affecting vitamin B(6) metabolism.
Wilson MP, Plecko B, Mills PB, Clayton PT
J Inherit Metab Dis 2019 Jul;42(4):629-646. Epub 2019 Mar 20 doi: 10.1002/jimd.12060. PMID: 30671974
Neonatal seizures.
Painter MJ, Bergman I, Crumrine P
Pediatr Clin North Am 1986 Feb;33(1):91-109. doi: 10.1016/s0031-3955(16)34971-9. PMID: 3513103
Vitamin-responsive inborn errors of metabolism.
Bartlett K
Adv Clin Chem 1983;23:141-98. doi: 10.1016/s0065-2423(08)60400-x. PMID: 6152513
Cystathioninuria.
Shaw KN, Lieberman E, Koch R, Donnell GN
Am J Dis Child 1967 Jan;113(1):119-28. doi: 10.1001/archpedi.1967.02090160169027. PMID: 4289134

Prognosis

Hypophosphatasia: An overview For 2017.
Whyte MP
Bone 2017 Sep;102:15-25. Epub 2017 Feb 24 doi: 10.1016/j.bone.2017.02.011. PMID: 28238808
Amenable Treatable Severe Pediatric Epilepsies.
Pearl PL
Semin Pediatr Neurol 2016 May;23(2):158-66. Epub 2016 Jun 7 doi: 10.1016/j.spen.2016.06.004. PMID: 27544473
Neonatal vitamin-responsive epileptic encephalopathies.
Gospe SM Jr
Chang Gung Med J 2010 Jan-Feb;33(1):1-12. PMID: 20184790
Infantile spasms.
Zupanc ML
Expert Opin Pharmacother 2003 Nov;4(11):2039-48. doi: 10.1517/14656566.4.11.2039. PMID: 14596657
Neonatal seizures.
Painter MJ, Bergman I, Crumrine P
Pediatr Clin North Am 1986 Feb;33(1):91-109. doi: 10.1016/s0031-3955(16)34971-9. PMID: 3513103

Clinical prediction guides

Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B(6) metabolism.
Whyte MP, Zhang F, Mack KE, Wenkert D, Gottesman GS, Ericson KL, Cole JT, Coburn SP
Bone 2024 Apr;181:117033. Epub 2024 Feb 1 doi: 10.1016/j.bone.2024.117033. PMID: 38307176
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
Korasick DA, Tanner JJ
Biochimie 2021 Apr;183:49-54. Epub 2020 Sep 19 doi: 10.1016/j.biochi.2020.09.016. PMID: 32956737Free PMC Article
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N
Mol Genet Metab 2019 May;127(1):12-22. Epub 2019 Mar 27 doi: 10.1016/j.ymgme.2019.03.009. PMID: 30952622
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
Neonatal seizures.
Painter MJ, Bergman I, Crumrine P
Pediatr Clin North Am 1986 Feb;33(1):91-109. doi: 10.1016/s0031-3955(16)34971-9. PMID: 3513103

Recent systematic reviews

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM
J Inherit Metab Dis 2021 Jan;44(1):178-192. Epub 2020 Dec 1 doi: 10.1002/jimd.12332. PMID: 33200442
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ
J Inherit Metab Dis 2015 Nov;38(6):1007-19. Epub 2015 Mar 12 doi: 10.1007/s10545-015-9830-z. PMID: 25762406Free PMC Article
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H
J Inherit Metab Dis 2014 Nov;37(6):889-98. Epub 2014 Jul 15 doi: 10.1007/s10545-014-9729-0. PMID: 25022222

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