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Table 1 Classification of mucolipidosis in humansa,b and animalsc

From: A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)

Type

Synonyms

OMIMa

Gene

Enzyme/Protein deficiency

Major organ impairment

Animal species

Id

Sialidosis

256550

NEU1

Ī±-N-acetyl neuraminidase

Skeletal & neurological

Mouse [8]

II

I-cell disease, ML II Ī±/Ī²

252500

GNPTAB

N-acetylglucosamine-1-phosphotransferase, Ī±/Ī²

Skeletal & neurological early onset, severe

Zebrafishe [9, 10] Mousee [11,12,13] Cats, OMIAc 001248ā€“9685, [14,15,16]

III

Pseudo-Hurler polydystrophy, ML III Ī±/Ī², ML IIIA

252600

Skeletal & neurologicallater onset, mild

None

ML III Ī³, ML IIIC

252605

GNPTG

N-acetylglucosamine-1-phosphotransferase, Ī³

Zebrafishe [17] Mousee [13, 18]

IVd

Sialolipidosis

252650

MCOLN1

Mucolipin-1 protein

Ophthalmologic

Caenorhabditis eleganse [19]

  1. aOnline Mendelian Inheritance in Man (OMIM), https://www.omim.org
  2. bOnline Metabolic and Molecular Bases of Inherited Disease (OMMBID), https://ommbid.mhmedical.com
  3. cOnline Mendelian Inheritance in Animal (OMIA), https://www.omia.org
  4. dHistorically grouped with mucolipidoses
  5. eGenetically engineered animal models