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Condition report · Metabolic

Mucolipidosis (ML II, III, IV)

Inherited lysosomal storage diseases caused by GNPTAB or GNPTG variants (I-cell disease and pseudo-Hurler polydystrophy) or MCOLN1 variants (mucolipidosis IV). Sialidosis, once called mucolipidosis I, is covered in the Glycoproteinoses report.

A condition report looks for rare variants known to cause the conditions it covers.

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What your report covers

The 3 conditions we analyse

GNPTAB-related mucolipidosis (ML II I-cell disease and ML III alpha/beta)

Autosomal recessive

Faulty tagging of lysosomal enzymes causes severe infantile coarse features, skeletal dysplasia and heart disease (ML II), or a milder later-onset form with joint stiffness and skeletal changes (ML III).

What a diagnosis changes

Care is supportive, with orthopaedic, cardiac and airway monitoring.

Genes analysed

Also known as

GNPTAB-related disorder; UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency

Includes 2 related subtypes ↓
  • mucolipidosis type II
  • mucolipidosis type III, alpha/beta
MONDO:0100122

GNPTG-related mucolipidosis (ML III gamma)

Autosomal recessive

A milder form with joint stiffness, skeletal changes and short stature, usually with normal intelligence.

Genes analysed

Also known as

ML 3 gamma; ML III gamma; mucolipidosis type 3 gamma; mucolipidosis type III gamma

MONDO:0009652OMIM 252605Orphanet 423470MedGen 340743

Mucolipidosis type IV

Autosomal recessive

Developmental delay, progressive vision loss from corneal clouding and retinal degeneration, and low stomach acid, caused by MCOLN1 variants; more common in people of Ashkenazi Jewish ancestry.

Genes analysed

Also known as

Berman syndrome; ganglioside neuraminidase deficiency; ganglioside sialidase deficiency; ML 4; ML IV; ML4; MLIV; Mucolipidosis IV; mucolipidosis IV; mucolipidosis type 4; sialolipidosis

MONDO:0009653OMIM 252650Orphanet 578MedGen 68663

Other metabolic conditions

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