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Neutral hyperaminoaciduria

MedGen UID:
344676
Concept ID:
C1856194
Finding
HPO: HP:0008353

Definition

The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine. [from HPO]

Term Hierarchy

Conditions with this feature

Neutral 1 amino acid transport defect
MedGen UID:
6723
Concept ID:
C0018609
Disease or Syndrome
Hartnup disorder (HND) is characterized by transient manifestations of pellagra, cerebellar ataxia, and psychosis. It is caused by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa (summary by Kleta et al., 2004).

Professional guidelines

PubMed

Noguchi A, Takahashi T
J Hum Genet 2019 Sep;64(9):849-858. Epub 2019 Jun 18 doi: 10.1038/s10038-019-0620-6. PMID: 31213652
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ
Orphanet J Rare Dis 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. PMID: 29025426Free PMC Article
van Spronsen FJ, Enns GM
Mol Genet Metab 2010;99 Suppl 1:S90-5. doi: 10.1016/j.ymgme.2009.10.008. PMID: 20123478

Recent clinical studies

Etiology

Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. PMID: 35029636Free PMC Article
Daly A, Evans S, Chahal S, Santra S, Pinto A, Jackson R, Gingell C, Rocha J, Van Spronsen FJ, MacDonald A
Orphanet J Rare Dis 2019 Feb 15;14(1):44. doi: 10.1186/s13023-019-1011-y. PMID: 30770754Free PMC Article
Couce ML, Sánchez-Pintos P, Vitoria I, De Castro MJ, Aldámiz-Echevarría L, Correcher P, Fernández-Marmiesse A, Roca I, Hermida A, Martínez-Olmos M, Leis R
Orphanet J Rare Dis 2018 Jun 27;13(1):103. doi: 10.1186/s13023-018-0847-x. PMID: 29945661Free PMC Article
Maines E, Di Palma A, Burlina A
Ital J Pediatr 2018 Jan 25;44(1):18. doi: 10.1186/s13052-018-0456-2. PMID: 29368648Free PMC Article
Liang WC, Nishino I
Acta Myol 2010 Oct;29(2):351-6. PMID: 21314018Free PMC Article

Diagnosis

Shyam R, Sekhar Panda H, Mishra J, Jyoti Panda J, Kour A
Clin Chim Acta 2024 Jun 1;559:119725. Epub 2024 May 9 doi: 10.1016/j.cca.2024.119725. PMID: 38734223
Hansen TB, Torner-Jordana J, Kessel L
J Optom 2023 Jul-Sep;16(3):214-220. Epub 2022 Aug 24 doi: 10.1016/j.optom.2022.07.002. PMID: 36028395Free PMC Article
Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA
Hum Genomics 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. PMID: 35854334Free PMC Article
Manta-Vogli PD, Dotsikas Y, Loukas YL, Schulpis KH
Nutr Neurosci 2020 Aug;23(8):628-639. Epub 2018 Oct 25 doi: 10.1080/1028415X.2018.1538196. PMID: 30359206
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ
Orphanet J Rare Dis 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. PMID: 29025426Free PMC Article

Therapy

Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA
Hum Genomics 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. PMID: 35854334Free PMC Article
Manta-Vogli PD, Dotsikas Y, Loukas YL, Schulpis KH
Nutr Neurosci 2020 Aug;23(8):628-639. Epub 2018 Oct 25 doi: 10.1080/1028415X.2018.1538196. PMID: 30359206
Cleary M, Trefz F, Muntau AC, Feillet F, van Spronsen FJ, Burlina A, Bélanger-Quintana A, Giżewska M, Gasteyger C, Bettiol E, Blau N, MacDonald A
Mol Genet Metab 2013 Dec;110(4):418-23. Epub 2013 Sep 9 doi: 10.1016/j.ymgme.2013.09.001. PMID: 24090706
Rocha JC, Martel F
J Inherit Metab Dis 2009 Aug;32(4):472-80. Epub 2009 May 13 doi: 10.1007/s10545-009-1132-x. PMID: 19437129
van Spronsen FJ, Smit PG, Koch R
J Inherit Metab Dis 2001 Feb;24(1):1-4. doi: 10.1023/a:1005689232358. PMID: 11286377

Prognosis

Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. PMID: 35029636Free PMC Article
Ehrenberg M, Bagdonite-Bejarano L, Fulton AB, Orenstein N, Yahalom C
Ophthalmic Genet 2021 Jun;42(3):243-251. Epub 2021 Feb 17 doi: 10.1080/13816810.2021.1888128. PMID: 33594928
Noguchi A, Takahashi T
J Hum Genet 2019 Sep;64(9):849-858. Epub 2019 Jun 18 doi: 10.1038/s10038-019-0620-6. PMID: 31213652
Maines E, Di Palma A, Burlina A
Ital J Pediatr 2018 Jan 25;44(1):18. doi: 10.1186/s13052-018-0456-2. PMID: 29368648Free PMC Article

Clinical prediction guides

Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Noguchi A, Takahashi T
J Hum Genet 2019 Sep;64(9):849-858. Epub 2019 Jun 18 doi: 10.1038/s10038-019-0620-6. PMID: 31213652
Valayannopoulos V, Schiff M, Guffon N, Nadjar Y, García-Cazorla A, Martinez-Pardo Casanova M, Cano A, Couce ML, Dalmau J, Peña-Quintana L, Rigalleau V, Touati G, Aldamiz-Echevarria L, Cathebras P, Eyer D, Brunet D, Damaj L, Dobbelaere D, Gay C, Hiéronimus S, Levrat V, Maillot F
Orphanet J Rare Dis 2019 Mar 14;14(1):66. doi: 10.1186/s13023-019-1036-2. PMID: 30871635Free PMC Article
Bijarnia-Mahay S, Häberle J, Jalan AB, Puri RD, Kohli S, Kudalkar K, Rüfenacht V, Gupta D, Maurya D, Verma J, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC
Orphanet J Rare Dis 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1. PMID: 30285816Free PMC Article
Couce ML, Sánchez-Pintos P, Vitoria I, De Castro MJ, Aldámiz-Echevarría L, Correcher P, Fernández-Marmiesse A, Roca I, Hermida A, Martínez-Olmos M, Leis R
Orphanet J Rare Dis 2018 Jun 27;13(1):103. doi: 10.1186/s13023-018-0847-x. PMID: 29945661Free PMC Article

Recent systematic reviews

Almási T, Guey LT, Lukacs C, Csetneki K, Vokó Z, Zelei T
Orphanet J Rare Dis 2019 Apr 25;14(1):84. doi: 10.1186/s13023-019-1063-z. PMID: 31023387Free PMC Article
Almási T, Guey LT, Lukacs C, Csetneki K, Vokó Z, Zelei T
Orphanet J Rare Dis 2019 Feb 13;14(1):40. doi: 10.1186/s13023-018-0987-z. PMID: 30760309Free PMC Article
González MJ, Polo MR, Ripollés P, Gassió R, Ormazabal A, Sierra C, Roura RC, Artuch R, Campistol J
Orphanet J Rare Dis 2018 Oct 26;13(1):188. doi: 10.1186/s13023-018-0912-5. PMID: 30367646Free PMC Article
Montoya Parra GA, Singh RH, Cetinyurek-Yavuz A, Kuhn M, MacDonald A
Orphanet J Rare Dis 2018 Jun 26;13(1):101. doi: 10.1186/s13023-018-0839-x. PMID: 29941009Free PMC Article
Geppert J, Stinton C, Freeman K, Fraser H, Clarke A, Johnson S, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Sep 11;12(1):154. doi: 10.1186/s13023-017-0696-z. PMID: 28893311Free PMC Article

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