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Amino Acid Transport Disorders, Inborn

MedGen UID:
199725
•Concept ID:
C0751746
•
Disease or Syndrome
Synonyms: Inborn Transport Disorders, Amino Acid; Inherited Amino Acid Transport Disorders; Transport Disorders, Amino Acid, Inborn

Definition

Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92) [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAmino Acid Transport Disorders, Inborn

Professional guidelines

PubMed

Clinical utility gene card for: Lowe syndrome.
Bökenkamp A, Levtchenko E, Recker F, Ludwig M
Eur J Hum Genet 2015 Jun;23(6):889-. Epub 2014 Sep 3 doi: 10.1038/ejhg.2014.177. PMID: 25182134Free PMC Article
Genetic screening.
Levy HL
Adv Hum Genet 1973;4:1-104. doi: 10.1007/978-1-4615-8261-8_1. PMID: 4593296
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 clinical studies

Etiology

Impact of age at onset and newborn screening on outcome in organic acidurias.
Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; additional individual contributors of the E-IMD consortium
J Inherit Metab Dis 2016 May;39(3):341-353. Epub 2015 Dec 21 doi: 10.1007/s10545-015-9907-8. PMID: 26689403
Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years.
Hadj-Taieb S, Nasrallah F, Hammami MB, Elasmi M, Sanhaji H, Moncef F, Kaabachi N
Tunis Med 2012 Mar;90(3):258-61. PMID: 22481200
Citrin deficiency, a perplexing global disorder.
Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F, Wong LJ
Mol Genet Metab 2009 Jan;96(1):44-9. Epub 2008 Nov 25 doi: 10.1016/j.ymgme.2008.10.007. PMID: 19036621
Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report.
Ceruti M, Rodi G, Stella GM, Adami A, Bolongaro A, Baritussio A, Pozzi E, Luisetti M
Orphanet J Rare Dis 2007 Mar 26;2:14. doi: 10.1186/1750-1172-2-14. PMID: 17386098Free PMC Article
Hazards associated with pregnancies and deliveries in lysinuric protein intolerance.
Tanner L, Näntö-Salonen K, Niinikoski H, Erkkola R, Huoponen K, Simell O
Metabolism 2006 Feb;55(2):224-31. doi: 10.1016/j.metabol.2005.08.016. PMID: 16423630

Diagnosis

Impact of age at onset and newborn screening on outcome in organic acidurias.
Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; additional individual contributors of the E-IMD consortium
J Inherit Metab Dis 2016 May;39(3):341-353. Epub 2015 Dec 21 doi: 10.1007/s10545-015-9907-8. PMID: 26689403
Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years.
Hadj-Taieb S, Nasrallah F, Hammami MB, Elasmi M, Sanhaji H, Moncef F, Kaabachi N
Tunis Med 2012 Mar;90(3):258-61. PMID: 22481200
Citrin deficiency, a perplexing global disorder.
Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F, Wong LJ
Mol Genet Metab 2009 Jan;96(1):44-9. Epub 2008 Nov 25 doi: 10.1016/j.ymgme.2008.10.007. PMID: 19036621
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
Font-Llitjós M, Rodríguez-Santiago B, Espino M, Sillué R, Mañas S, Gómez L, Pérez-Jurado LA, Palacín M, Nunes V
Eur J Hum Genet 2009 Jan;17(1):71-9. Epub 2008 Aug 20 doi: 10.1038/ejhg.2008.145. PMID: 18716612Free PMC Article
Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report.
Ceruti M, Rodi G, Stella GM, Adami A, Bolongaro A, Baritussio A, Pozzi E, Luisetti M
Orphanet J Rare Dis 2007 Mar 26;2:14. doi: 10.1186/1750-1172-2-14. PMID: 17386098Free PMC Article

Therapy

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
Valayannopoulos V, Boddaert N, Chabli A, Barbier V, Desguerre I, Philippe A, Afenjar A, Mazzuca M, Cheillan D, Munnich A, de Keyzer Y, Jakobs C, Salomons GS, de Lonlay P
J Inherit Metab Dis 2012 Jan;35(1):151-7. Epub 2011 Jun 10 doi: 10.1007/s10545-011-9358-9. PMID: 21660517
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM
J Inherit Metab Dis 2012 Jan;35(1):141-9. Epub 2011 May 10 doi: 10.1007/s10545-011-9345-1. PMID: 21556832Free PMC Article
Hypocarnitinemia in lysinuric protein intolerance.
Korman SH, Raas-Rothschild A, Elpeleg O, Gutman A
Mol Genet Metab 2002 May;76(1):81-3. doi: 10.1016/s1096-7192(02)00019-7. PMID: 12175786

Prognosis

Impact of age at onset and newborn screening on outcome in organic acidurias.
Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; additional individual contributors of the E-IMD consortium
J Inherit Metab Dis 2016 May;39(3):341-353. Epub 2015 Dec 21 doi: 10.1007/s10545-015-9907-8. PMID: 26689403
Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years.
Hadj-Taieb S, Nasrallah F, Hammami MB, Elasmi M, Sanhaji H, Moncef F, Kaabachi N
Tunis Med 2012 Mar;90(3):258-61. PMID: 22481200
Creatine transporter deficiency in two adult patients with static encephalopathy.
Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch R, Campistol J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S91-6. Epub 2009 Mar 25 doi: 10.1007/s10545-009-1083-2. PMID: 19319661
Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report.
Ceruti M, Rodi G, Stella GM, Adami A, Bolongaro A, Baritussio A, Pozzi E, Luisetti M
Orphanet J Rare Dis 2007 Mar 26;2:14. doi: 10.1186/1750-1172-2-14. PMID: 17386098Free PMC Article
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance.
Santamaria F, Brancaccio G, Parenti G, Francalanci P, Squitieri C, Sebastio G, Dionisi-Vici C, D'argenio P, Andria G, Parisi F
J Pediatr 2004 Aug;145(2):268-72. doi: 10.1016/j.jpeds.2004.04.047. PMID: 15289783

Clinical prediction guides

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM
J Inherit Metab Dis 2012 Jan;35(1):141-9. Epub 2011 May 10 doi: 10.1007/s10545-011-9345-1. PMID: 21556832Free PMC Article
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance.
Tanner LM, Näntö-Salonen K, Niinikoski H, Jahnukainen T, Keskinen P, Saha H, Kananen K, Helanterä A, Metso M, Linnanvuo M, Huoponen K, Simell O
J Pediatr 2007 Jun;150(6):631-4, 634.e1. doi: 10.1016/j.jpeds.2007.01.043. PMID: 17517249

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