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Alpha-aminoadipic semialdehyde deficiency

MedGen UID:
282886
•Concept ID:
C1527317
•
Disease or Syndrome
Synonyms: Alpha Aminoadipic Semialdehyde Deficiency Disease; Alpha-Aminoadipic Semialdehyde Deficiency Disease; Deficiency Disease, Alpha Aminoadipic Semialdehyde; Deficiency Disease, Alpha-Aminoadipic Semialdehyde
SNOMED CT: Alpha-aminoadipic semialdehyde deficiency (58558003)

Professional guidelines

PubMed

Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Fang C, Yang L, Xiao F, Yan K, Zhou W
Epilepsy Res 2024 May;202:107363. Epub 2024 Apr 17 doi: 10.1016/j.eplepsyres.2024.107363. PMID: 38636407
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
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24 doi: 10.1016/j.ymgme.2011.05.014. PMID: 21704546

Recent clinical studies

Etiology

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM Jr, Coughlin CR 2nd, van Karnebeek CDM
Mol Genet Metab 2022 Apr;135(4):350-356. Epub 2022 Feb 17 doi: 10.1016/j.ymgme.2022.02.005. PMID: 35279367
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
Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.
Ferrer-López I, Ruiz-Sala P, Merinero B, Pérez-Cerdá C, Ugarte M
J Chromatogr B Analyt Technol Biomed Life Sci 2014 Jan 1;944:141-3. Epub 2013 Nov 15 doi: 10.1016/j.jchromb.2013.10.032. PMID: 24316525
Genetic basis of hyperlysinemia.
Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M
Orphanet J Rare Dis 2013 Apr 9;8:57. doi: 10.1186/1750-1172-8-57. PMID: 23570448Free PMC Article
The pediatric neurotransmitter disorders.
Pearl PL, Taylor JL, Trzcinski S, Sokohl A
J Child Neurol 2007 May;22(5):606-16. doi: 10.1177/0883073807302619. PMID: 17690069

Diagnosis

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinović J, Struys EA, Jansen LA, Gospe SM Jr, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL
J Clin Invest 2021 Aug 2;131(15) doi: 10.1172/JCI148272. PMID: 34138754Free PMC Article
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
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S
Pediatr Neurol 2016 Jun;59:6-12. Epub 2016 Jan 11 doi: 10.1016/j.pediatrneurol.2015.12.013. PMID: 26995068
Neonatal vitamin-responsive epileptic encephalopathies.
Gospe SM Jr
Chang Gung Med J 2010 Jan-Feb;33(1):1-12. PMID: 20184790
The pediatric neurotransmitter disorders.
Pearl PL, Taylor JL, Trzcinski S, Sokohl A
J Child Neurol 2007 May;22(5):606-16. doi: 10.1177/0883073807302619. PMID: 17690069

Therapy

Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Fang C, Yang L, Xiao F, Yan K, Zhou W
Epilepsy Res 2024 May;202:107363. Epub 2024 Apr 17 doi: 10.1016/j.eplepsyres.2024.107363. PMID: 38636407
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM Jr, Coughlin CR 2nd, van Karnebeek CDM
Mol Genet Metab 2022 Apr;135(4):350-356. Epub 2022 Feb 17 doi: 10.1016/j.ymgme.2022.02.005. PMID: 35279367
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
Inherited Disorders of Lysine Metabolism: A Review.
Bouchereau J, Schiff M
J Nutr 2020 Oct 1;150(Suppl 1):2556S-2560S. doi: 10.1093/jn/nxaa112. PMID: 33000154
Neonatal vitamin-responsive epileptic encephalopathies.
Gospe SM Jr
Chang Gung Med J 2010 Jan-Feb;33(1):1-12. PMID: 20184790

Prognosis

Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Fang C, Yang L, Xiao F, Yan K, Zhou W
Epilepsy Res 2024 May;202:107363. Epub 2024 Apr 17 doi: 10.1016/j.eplepsyres.2024.107363. PMID: 38636407
Genetic basis of hyperlysinemia.
Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M
Orphanet J Rare Dis 2013 Apr 9;8:57. doi: 10.1186/1750-1172-8-57. PMID: 23570448Free PMC Article
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24 doi: 10.1016/j.ymgme.2011.05.014. PMID: 21704546
Neonatal vitamin-responsive epileptic encephalopathies.
Gospe SM Jr
Chang Gung Med J 2010 Jan-Feb;33(1):1-12. PMID: 20184790
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.
Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT
Am J Hum Genet 2000 Jun;66(6):1736-43. Epub 2000 Apr 20 doi: 10.1086/302919. PMID: 10775527Free PMC Article

Clinical prediction guides

Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
Boehm T, Hubmann H, Petroczi K, Mathis D, Klavins K, Fauler G, Plecko B, Struys E, Jilma B
J Inherit Metab Dis 2020 Jul;43(4):891-900. Epub 2020 Jan 29 doi: 10.1002/jimd.12214. PMID: 31930735Free PMC Article
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
de Rooy RLP, Halbertsma FJ, Struijs EA, van Spronsen FJ, Lunsing RJ, Schippers HM, van Hasselt PM, Plecko B, Wohlrab G, Whalen S, Benoist JF, Valence S, Mills PB, Bok LA
Eur J Paediatr Neurol 2018 Jul;22(4):662-666. Epub 2018 Mar 30 doi: 10.1016/j.ejpn.2018.03.009. PMID: 29661537
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
Coughlin CR 2nd, van Karnebeek CD, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, Gaughan S, Burns C, Mirsky DM, Gallagher RC, Van Hove JL
Mol Genet Metab 2015 Sep-Oct;116(1-2):35-43. Epub 2015 May 23 doi: 10.1016/j.ymgme.2015.05.011. PMID: 26026794
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.
Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R
Mol Genet Metab 2013 Nov;110(3):231-6. Epub 2013 Jul 6 doi: 10.1016/j.ymgme.2013.06.021. PMID: 23890588
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.
Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT
Am J Hum Genet 2000 Jun;66(6):1736-43. Epub 2000 Apr 20 doi: 10.1086/302919. PMID: 10775527Free PMC Article

Recent systematic reviews

Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update.
Marinella G, Pascarella F, Vetro A, Bonuccelli A, Pochiero F, Santangelo A, Alessandrì MG, Pasquariello R, Orsini A, Battini R
Seizure 2024 Aug;120:135-141. Epub 2024 Jun 24 doi: 10.1016/j.seizure.2024.06.020. PMID: 38991296
Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Fang C, Yang L, Xiao F, Yan K, Zhou W
Epilepsy Res 2024 May;202:107363. Epub 2024 Apr 17 doi: 10.1016/j.eplepsyres.2024.107363. PMID: 38636407
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

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