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Summary

Disease	SIALIDOSIS TYPE II
Synonym	NEURAMINIDASE DEFICIENCY MUCOLIPIDOSIS I
OMIM	256550 OMIM = Online Medalian Inheritance of Men
Orphanet	87876
Gene locus	6p21.33
Treatment	symptomatic therapy
Summary	rare autosomal recessive - type I: milder, late-onset, normosomatic form - type II: severe, early-onset form

symptoms

angiokeratoma

ascites

ataxia

blindness, visual loss, visual impairment

cardiomegaly

cherry-red spot on retinal macula

coarse facial features

corneal clouding

dysmorphism

dysostosis multiplex

edema

hearing defect, deafness

hepatomegaly (large liver)

hydrops fetalis

hypotonia

lens opacities

mental retardation

myoclonus

night blindness

nystagmus

onset, adolescent

onset, adulthood

onset, childhood

onset, neonatal

progressive neurologic defect

prominent abdomen

short stature

splenomegaly (large spleen)

tubulopathy

vertebral changes

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
Sialyloligosaccharides	0.00	0.00			increased	urine	no data
alpha-Neuraminidase					decreased activity	fibroblasts
Lymphocytes, vacuoles						blood

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Chowrimootoo GFE	et al.	Caeruloplasmin isoforms in Wilsons disease in neonates	Arch Dis Child Fetal Neonatal Ed		79	0	F198-F201	1998
Zuo L,	et al.	Historical role of alpha-1-antitrypsin deficiency in respiratory and hepatic complications	Gene		589	2	118-122	2016
Jebbink J,	et al.	Molecular genetics of preeclampsia and HELLP syndrome - a review	Biochim Biophys Acta		1822	12	1960-1669	2012
Seidner G	et al.	GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier	Nat Genet		18	0	188-191	1998
Beck M	Sieber N, Goebel HH	Progressive cerebellar ataxia in juvenile GM2-gangliosidosis type Sandhoff	Eur J Pediatr		0	0	866-867	1997
Guneral F	Bachmann C	Age-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric Population	Clin Chem		40	6	862-868	1994
Maher F	et al.	Glucose transporter proteins in brain	FASEB J		8	0	1003-1011	1994
De Vivo DC	et al.	Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay	N Engl J Med		325	0	703-709	1991