Mucolipidosis (ML)

ML I

See Sialidosis type I in table Oligosaccharidosis and Related Disorders

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ML II (I-cell disease; 252500*)

N-Acetylglucosaminyl-1-phosphotransfeerase catalytic subunit

Onset: First year of life

Urine metabolites: No mucopolysaccharides

Clinical features: Similar to Hurler syndrome but more severe; presence of phase-dense inclusion bodies in fibroblasts (I-cells)

Treatment: Supportive care

ML III (pseudo-Hurler polydystrophy)

N-Acetylglucosaminyl-1-phosphotransfeerase

Onset: 2–4 years

Urine metabolites: None

Clinical features: Similar to ML II but later onset and possible survival to adulthood

Treatment: Supportive care

Type III-A (252600*)

Catalytic subunit

Type III-C (252605*)

Substrate-recognition subunit

ML IV

See Sialolipidosis in table Oligosaccharidosis and Related Disorders

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