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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

Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules.
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
Recent developments and new applications of tandem mass spectrometry in newborn screening.
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

A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.
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
Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules.
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
Microelements and inherited metabolic diseases.
Marklová E
Acta Medica (Hradec Kralove) 2002;45(4):129-33. PMID: 12587779
Genetic defects of folate and cobalamin metabolism.
Fowler B
Eur J Pediatr 1998 Apr;157 Suppl 2:S60-6. doi: 10.1007/pl00014306. PMID: 9587028

Diagnosis

Cytokine profile and cholesterol levels in patients with Niemann-Pick type C disease presenting neurological symptoms: in vivo effect of miglustat and in vitro effect of N-acetylcysteine and coenzyme Q10.
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
Movement Disorders in Treatable Inborn Errors of Metabolism.
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
Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.
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
Recent developments and new applications of tandem mass spectrometry in newborn screening.
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
Vitamin B12 in health and disease: part I--inherited disorders of function, absorption, and transport.
Kapadia CR
Gastroenterologist 1995 Dec;3(4):329-44. PMID: 8775094

Therapy

Cytokine profile and cholesterol levels in patients with Niemann-Pick type C disease presenting neurological symptoms: in vivo effect of miglustat and in vitro effect of N-acetylcysteine and coenzyme Q10.
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
Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report.
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
A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.
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
Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.
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
Recombinant glycosylasparaginase and in vitro correction of aspartylglycosaminuria.
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

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
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
Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report.
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
Clinical and genetic features of lysinuric protein intolerance in Japan.
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
Proprotein convertases subtilisin/kexin type 9, an enzyme turned escort protein: hepatic and extra hepatic functions.
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
Recent developments and new applications of tandem mass spectrometry in newborn screening.
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

Clinical and genetic features of lysinuric protein intolerance in Japan.
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
Recent developments and new applications of tandem mass spectrometry in newborn screening.
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
Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes.
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

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.
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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