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Mucolipidosis Type IIIA

MedGen UID:
896560
•Concept ID:
C4086611
•
Disease or Syndrome

Definition

A lysosomal storage disease characterized by multiple bone formation abnormalities, progressive joint stiffness, developmental abnormalities, hearing loss, hepatosplenomegaly, increased acne, enlarged tongue, and cornea clouding due to accumulation of lipid substances. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMucolipidosis Type IIIA

Professional guidelines

PubMed

Newborn screening for lysosomal storage disorders.
Meikle PJ, Grasby DJ, Dean CJ, Lang DL, Bockmann M, Whittle AM, Fietz MJ, Simonsen H, Fuller M, Brooks DA, Hopwood JJ
Mol Genet Metab 2006 Aug;88(4):307-14. Epub 2006 Apr 4 doi: 10.1016/j.ymgme.2006.02.013. PMID: 16600651

Recent clinical studies

Etiology

Newborn screening for lysosomal storage disorders.
Meikle PJ, Grasby DJ, Dean CJ, Lang DL, Bockmann M, Whittle AM, Fietz MJ, Simonsen H, Fuller M, Brooks DA, Hopwood JJ
Mol Genet Metab 2006 Aug;88(4):307-14. Epub 2006 Apr 4 doi: 10.1016/j.ymgme.2006.02.013. PMID: 16600651
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.
Paik KH, Song SM, Ki CS, Yu HW, Kim JS, Min KH, Chang SH, Yoo EJ, Lee IJ, Kwan EK, Han SJ, Jin DK
Hum Mutat 2005 Oct;26(4):308-14. doi: 10.1002/humu.20205. PMID: 16116615
The frequency of lysosomal storage diseases in The Netherlands.
Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP
Hum Genet 1999 Jul-Aug;105(1-2):151-6. doi: 10.1007/s004399900075. PMID: 10480370
Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders.
Elleder M, Sokolová J, Hrebícek M
Acta Neuropathol 1997 Apr;93(4):379-90. doi: 10.1007/s004010050629. PMID: 9113203
Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis.
Ikeda K, Goebel HH, Burck U, Kohlschütter A
Eur J Pediatr 1982 Mar;138(2):179-85. doi: 10.1007/BF00441150. PMID: 6284508

Diagnosis

Screening patients referred to a metabolic clinic for lysosomal storage disorders.
Fuller M, Tucker JN, Lang DL, Dean CJ, Fietz MJ, Meikle PJ, Hopwood JJ
J Med Genet 2011 Jun;48(6):422-5. Epub 2011 Mar 17 doi: 10.1136/jmg.2010.088096. PMID: 21415080
Newborn screening for lysosomal storage disorders.
Meikle PJ, Grasby DJ, Dean CJ, Lang DL, Bockmann M, Whittle AM, Fietz MJ, Simonsen H, Fuller M, Brooks DA, Hopwood JJ
Mol Genet Metab 2006 Aug;88(4):307-14. Epub 2006 Apr 4 doi: 10.1016/j.ymgme.2006.02.013. PMID: 16600651
The frequency of lysosomal storage diseases in The Netherlands.
Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP
Hum Genet 1999 Jul-Aug;105(1-2):151-6. doi: 10.1007/s004399900075. PMID: 10480370
Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis.
Ikeda K, Goebel HH, Burck U, Kohlschütter A
Eur J Pediatr 1982 Mar;138(2):179-85. doi: 10.1007/BF00441150. PMID: 6284508

Prognosis

Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders.
Elleder M, Sokolová J, Hrebícek M
Acta Neuropathol 1997 Apr;93(4):379-90. doi: 10.1007/s004010050629. PMID: 9113203

Clinical prediction guides

Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis.
Ikeda K, Goebel HH, Burck U, Kohlschütter A
Eur J Pediatr 1982 Mar;138(2):179-85. doi: 10.1007/BF00441150. PMID: 6284508

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