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Inborn disorder of lysosomal amino acid transport

MedGen UID:
1842266
Concept ID:
C5681276
Disease or Syndrome
Synonyms: disorder of lysosomal amino acid transport; Disorder of lysosomal amino acid transport; inborn disorder of lysosomal amino acid transport
 
Monarch Initiative: MONDO:0019246
Orphanet: ORPHA79207

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn disorder of lysosomal amino acid transport

Professional guidelines

PubMed

Auray-Blais C, Cyr D, Drouin R
J Inherit Metab Dis 2007 Aug;30(4):515-21. Epub 2007 Jun 14 doi: 10.1007/s10545-007-0607-x. PMID: 17570073
Rinaldo P, Tortorelli S, Matern D
Curr Opin Pediatr 2004 Aug;16(4):427-33. doi: 10.1097/01.mop.0000133635.79661.84. PMID: 15273505

Recent clinical studies

Etiology

Armour CM, Brebner A, Watkins D, Geraghty MT, Chan A, Rosenblatt DS
Pediatrics 2013 Jul;132(1):e257-61. Epub 2013 Jun 17 doi: 10.1542/peds.2013-0105. PMID: 23776111
Auray-Blais C, Cyr D, Drouin R
J Inherit Metab Dis 2007 Aug;30(4):515-21. Epub 2007 Jun 14 doi: 10.1007/s10545-007-0607-x. PMID: 17570073
Marklová E
Acta Medica (Hradec Kralove) 2002;45(4):129-33. PMID: 12587779
Fowler B
Eur J Pediatr 1998 Apr;157 Suppl 2:S60-6. doi: 10.1007/pl00014306. PMID: 9587028

Diagnosis

Hammerschmidt TG, Donida B, Faverzani JL, Moura AP, Dos Reis BG, Machado AZ, Kessler RG, Sebastião FM, Reinhardt LS, Moura DJ, Vargas CR
Exp Cell Res 2022 Jul 15;416(2):113175. Epub 2022 Apr 27 doi: 10.1016/j.yexcr.2022.113175. PMID: 35487270
Ebrahimi-Fakhari D, Van Karnebeek C, Münchau A
Mov Disord 2019 May;34(5):598-613. Epub 2018 Dec 17 doi: 10.1002/mds.27568. PMID: 30557456
van Karnebeek CD, Stockler S
Mol Genet Metab 2012 Mar;105(3):368-81. Epub 2011 Nov 30 doi: 10.1016/j.ymgme.2011.11.191. PMID: 22212131
Rinaldo P, Tortorelli S, Matern D
Curr Opin Pediatr 2004 Aug;16(4):427-33. doi: 10.1097/01.mop.0000133635.79661.84. PMID: 15273505
Kapadia CR
Gastroenterologist 1995 Dec;3(4):329-44. PMID: 8775094

Therapy

Hammerschmidt TG, Donida B, Faverzani JL, Moura AP, Dos Reis BG, Machado AZ, Kessler RG, Sebastião FM, Reinhardt LS, Moura DJ, Vargas CR
Exp Cell Res 2022 Jul 15;416(2):113175. Epub 2022 Apr 27 doi: 10.1016/j.yexcr.2022.113175. PMID: 35487270
Elmonem MA, Veys K, Oliveira Arcolino F, Van Dyck M, Benedetti MC, Diomedi-Camassei F, De Hertogh G, van den Heuvel LP, Renard M, Levtchenko E
Am J Transplant 2018 Nov;18(11):2823-2828. Epub 2018 Aug 21 doi: 10.1111/ajt.15029. PMID: 30030899
Armour CM, Brebner A, Watkins D, Geraghty MT, Chan A, Rosenblatt DS
Pediatrics 2013 Jul;132(1):e257-61. Epub 2013 Jun 17 doi: 10.1542/peds.2013-0105. PMID: 23776111
van Karnebeek CD, Stockler S
Mol Genet Metab 2012 Mar;105(3):368-81. Epub 2011 Nov 30 doi: 10.1016/j.ymgme.2011.11.191. PMID: 22212131
Mononen I, Heisterkamp N, Dunder U, Romppanen EL, Noronkoski T, Kuronen I, Groffen J
FASEB J 1995 Mar;9(5):428-33. doi: 10.1096/fasebj.9.5.7896015. PMID: 7896015

Prognosis

Pillai NR, Miller D, Pierpont EI, Berry SA, Aggarwal A
Am J Med Genet A 2021 Jun;185(6):1870-1874. Epub 2021 Mar 17 doi: 10.1002/ajmg.a.62170. PMID: 33729671
Elmonem MA, Veys K, Oliveira Arcolino F, Van Dyck M, Benedetti MC, Diomedi-Camassei F, De Hertogh G, van den Heuvel LP, Renard M, Levtchenko E
Am J Transplant 2018 Nov;18(11):2823-2828. Epub 2018 Aug 21 doi: 10.1111/ajt.15029. PMID: 30030899
Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, Takayanagi M, Okuyama T, Endo F, Takasago Y, Shoji Y, Takahashi T
Pediatr Int 2016 Oct;58(10):979-983. Epub 2016 Jun 8 doi: 10.1111/ped.12946. PMID: 26865117
Mbikay M, Mayne J, Chrétien M
J Diabetes 2013 Dec;5(4):391-405. Epub 2013 Jul 8 doi: 10.1111/1753-0407.12064. PMID: 23714205
Rinaldo P, Tortorelli S, Matern D
Curr Opin Pediatr 2004 Aug;16(4):427-33. doi: 10.1097/01.mop.0000133635.79661.84. PMID: 15273505

Clinical prediction guides

Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, Takayanagi M, Okuyama T, Endo F, Takasago Y, Shoji Y, Takahashi T
Pediatr Int 2016 Oct;58(10):979-983. Epub 2016 Jun 8 doi: 10.1111/ped.12946. PMID: 26865117
Rinaldo P, Tortorelli S, Matern D
Curr Opin Pediatr 2004 Aug;16(4):427-33. doi: 10.1097/01.mop.0000133635.79661.84. PMID: 15273505
Jonas AJ
Biochem Biophys Res Commun 1986 May 29;137(1):175-81. doi: 10.1016/0006-291x(86)91192-7. PMID: 3718508

Recent systematic reviews

van Karnebeek CD, Stockler S
Mol Genet Metab 2012 Mar;105(3):368-81. Epub 2011 Nov 30 doi: 10.1016/j.ymgme.2011.11.191. PMID: 22212131

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