MUCOLIPIDOSIS IV

Question 1

What is  MUCOLIPIDOSIS IV?

Accepted Answer

rare
autosomal recessive
mutation in the MCOLN1 gene
About 5% of individuals have atypical mucolipidosis IV, often manifest as less severe psychomotor retardation and/or eye findings [Schiffmann R, 2015]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mukolipidose Typ IV

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 252650

Question 4

Which enzymes are involved?

Accepted Answer

Mucolipin-1

Disease	MUCOLIPIDOSIS IV
Synonym	SIALOLIPIDOSIS
OMIM	252650 OMIM = Online Mendelian Inheritance of Men
Orphanet	578
Protein (UniProt)	Mucolipin-1
Gene locus	19p13.2
ICD	E75.1
Summary	rare autosomal recessive mutation in the MCOLN1 gene About 5% of individuals have atypical mucolipidosis IV, often manifest as less severe psychomotor retardation and/or eye findings [Schiffmann R, 2015]
Laboratory findings	Creatine kinase normal/inc (serum) Iron dec (serum) Phospholipids inc (urine) Progastrin inc (plasma)
Symptoms	anemia blindness, visual loss, visual impairment corneal clouding corneal deposits defect of walking, running, rising or climbing dystonia Electron microscopy [-] hyperreflexia hypotonia mental retardation microcephaly (<2 SD for age) motor retardation muscle atrophy onset, childhood onset, infancy onset, neonatal optic atrophy photophobia or photosensitive defect in light-exposed area progressive neurologic defect psychomotor retardation spastic diplegia/quadriplegia/tetraplegia strabismus