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Summary
FUCOSIDOSIS
230000
OMIM = Online Medalian Inheritance of Men
349
1p34

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
rare autosomal recessive 2 types (?): Fucosidosis I (rapidly progressive) Fucosidosis II (slowly progressive)
symptoms
angiokeratoma
cardiomegaly
cardiomyopathy
coarse facial features
contractures, joints
corneal clouding
dehydration
dysostosis multiplex
growth retardation
hearing defect, deafness
hernia
hypertonia, spasticity
infections (severe or recurrent)
kyphoskoliosis
macrocephaly (large calvaria, >2 SD for age)
mental retardation
neurological deterioration
onset, child
peripheral neuropathy
seizures
skin, thickened
teleangiectasia
laboratory finding
alpha-L-Fucosidase 100.00decreased activityfibroblasts
Oligosaccharides0.000.00 increasedurineno data
Fucoglycopeptides0.000.00 increasedurineno data
Chloride 20.0030.00increasedsweat
Sodium 20.0030.00increasedsweat
CT, brain, abnormalities -
MRI, brain, abnormalities -
Lymphocytes, vacuoles blood
Chitotriosidase increased activityplasma
Literature
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Jakobs Cet al.Various organic aciduriasin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London00163-1761996
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Johnson JLWadman SKMolybdenum cofactor deficiency and isolated sulfite oxidase deficiencyThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202271-22831995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993