rare (<1:200000) autosomal recessive mutation in the FUCA1 gene 2 types: Fucosidosis I - severe infantile form Fucosidosis II - milder form

Gibt es eine deutsche Bezeichnung?

Fukosidose; Alpha-L-Fucosidase-Mangel

FUCOSIDOSIS

Q: What is FUCOSIDOSIS?

rare (<1:200000) autosomal recessive mutation in the FUCA1 gene 2 types: Fucosidosis I - severe infantile form Fucosidosis II - milder form

Q: Gibt es eine deutsche Bezeichnung?

Fukosidose; Alpha-L-Fucosidase-Mangel

Disease	FUCOSIDOSIS
Synonym	ALPHA-L-FUCOSIDASE DEFICIENCY
OMIM	230000 OMIM = Online Mendelian Inheritance of Men
Orphanet	349
Protein (UniProt)	Tissue alpha-L-fucosidase
ExPASy	3.2.1.51
Gene locus	1p36.11 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Fucosidase, alpha-L- 1, tissue
ICD	E77.1
Summary	rare (<1:200000) autosomal recessive mutation in the FUCA1 gene 2 types: Fucosidosis I - severe infantile form Fucosidosis II - milder form
Laboratory findings	alpha-L-Fucosidase dec (fibroblasts) Chitotriosidase inc (plasma) Chloride inc (sweat) Fucoglycopeptides inc (urine) Lymphocytes, vacuoles (blood) Oligosaccharides inc (urine) Sodium inc (sweat)
Symptoms	angiokeratoma basal ganglia, changes, lesions, calcifications (MRI, CT) cardiomegaly cardiomyopathy cerebral atrophy coarse facial features contractures, joints corneal clouding CT, brain, abnormalities [-] dehydration dysostosis multiplex dystonia epilepsy growth retardation, poor growth hearing defect, deafness hepatomegaly (large liver) hernia hypertonia, spasticity infections (severe or recurrent) macrocephaly (large calvaria, >2 SD for age) mental retardation MRI, brain, abnormalities [-] neurological deterioration onset, childhood peripheral neuropathy ptosis (drooping eyelid) seizures short stature skin defects skin, thickened skoliosis, kyphoskoliosis spastic diplegia/quadriplegia/tetraplegia splenomegaly (large spleen) teleangiectasia