What is SIALIDOSIS TYPE I?

rare autosomal recessive - type I: milder, late-onset, normosomatic form - type II: severe, early-onset form

Gibt es eine deutsche Bezeichnung?

Sialidose Typ 1; Lipomukopolysaccharidose

Disease	SIALIDOSIS TYPE I
Synonym	NEURAMINIDASE DEFICIENCY; MUCOLIPIDOSIS I
OMIM	256550 OMIM = Online Mendelian Inheritance of Men
Orphanet	812
Protein (UniProt)	Sialidase-1
ExPASy	3.2.1.18
Gene locus	6p21.33
ICD	E77.1
Summary	rare autosomal recessive - type I: milder, late-onset, normosomatic form - type II: severe, early-onset form
Laboratory findings	alpha-Neuraminidase dec (fibroblasts) Sialyloligosaccharides inc (urine) Lymphocytes, vacuoles (blood)
Symptoms	ataxia cherry-red spot on retinal macula coarse facial features corneal clouding developmental delay dysostosis multiplex hearing defect, deafness hepatomegaly (large liver) hypertonia, spasticity intellectual disability/intellectual developmental disorder macrocephaly (large calvaria, >2 SD for age) myoclonus renal failure, chronic seizures short stature blindness, visual loss, visual impairment dysarthria hyperreflexia hypotonia lens opacities mental retardation night blindness nystagmus onset, adolescent onset, adulthood onset, childhood progressive neurologic defect pyramidal signs renal failure, acute/chronic splenomegaly (large spleen)