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Summary
FUCOSIDOSIS
ALPHA-L-FUCOSIDASE DEFICIENCY
230000
OMIM = Online Medalian Inheritance of Men
349
1p36.11

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
rare (<1:200:000)
autosomal recessive
2 types:
Fucosidosis I - severe infantile form
Fucosidosis II - milder form
symptoms
angiokeratoma
cardiomegaly
cardiomyopathy
cerebral atrophy
coarse facial features
contractures, joints
corneal clouding
dehydration
dysostosis multiplex
dystonia
epilepsy
growth retardation
hearing defect, deafness
hepatomegaly (large liver)
hernia
hypertonia, spasticity
infections (severe or recurrent)
macrocephaly (large calvaria, >2 SD for age)
mental retardation
neurological deterioration
onset, childhood
peripheral neuropathy
ptosis (drooping eyelid)
seizures
short stature
skin defects
skin, thickened
skoliosis, kyphoskoliosis
spastic diplegia/quadriplegia
splenomegaly (large spleen)
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
Nakaoka H,et al.Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitisInt J Hematol956692-6962012
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
Sauer AV, Brigida I,et al.Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiencyFront Immunol302652012
Speckmann C,et al.Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosisJ Allergy Clin Immunol1304991-9942012
Frei P,et al.Liver Transplantation because of Acute Liver Failure due to Heme Arginate Overdose in a Patient with Acute Intermittent PorphyriaCase Rep Gastroenterol61190-1962012
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
Zhang J,et al.A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogenJ Chromatogr B Analyt Technol Biomed Life Sci879242389-23962011
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
Siegesmund M,et al.The acute hepatic porphyrias: current status and future challengesBest Pract Res Clin Gastroenterol245593-6052010
Grunebaum E,Cutz E, Roifman CMPulmonary alveolar proteinosis in patients with adenosine deaminase deficiencyJ Allergy Clin Immunol12961588-15932012
Kanegane H,et al.Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiencyPediatr Transplant002012