What is GALACTOSIALIDOSIS?

rare autosomal recessive mutation in the CTSA gene 3 forms: - early infantile - late infantile - juvenile/adult

Gibt es eine deutsche Bezeichnung?

Galaktosialidose; Neuraminidase-beta-Galaktosidase-Mangel, Goldberg-Syndrom

Which enzymes are involved?

Lysosomal protective protein, lysosomal β-galactosidase and neuraminidase

GALACTOSIALIDOSIS

Disease	GALACTOSIALIDOSIS
Synonym	GOLDBERG SYNDROME; NEURAMINIDASE DEFICIENCY; GALACTOSIALIDOSIS
OMIM	256540 OMIM = Online Mendelian Inheritance of Men
Orphanet	351
Protein (UniProt)	Lysosomal protective protein, lysosomal β-galactosidase and neuraminidase
ExPASy	3.4.16.5
Gene locus	20q13.12 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Protective protein for beta-galactosidase (cathepsin A)
ICD	E77.1
Summary	rare autosomal recessive mutation in the CTSA gene 3 forms: - early infantile - late infantile - juvenile/adult
Laboratory findings	beta-Galactosidase dec (fibroblasts) beta-Galactosidase dec (leucocytes) Lymphocytes, vacuoles (blood) Neuraminidase dec (fibroblasts) Neuraminidase dec (leucocytes) Oligosaccharides inc (urine) Protein inc (urine) Sialyloligosaccharides inc (urine)
Symptoms	angiokeratoma ascites ataxia blindness, visual loss, visual impairment cardiomyopathy cherry-red spot on retinal macula coarse facial features corneal clouding corneal deposits dysmorphism dysostosis multiplex edema emphysema growth retardation, poor growth hearing defect, deafness heart involvement hemangioma hepatomegaly (large liver) hydrops fetalis inguinal hernia joint stiffness macrocephaly (large calvaria, >2 SD for age) mental retardation myoclonus onset, adolescent onset, childhood onset, infancy onset, neonatal pain, extremities (acroparesthesia) seizures skeletal changes, skeletal abnormalities splenomegaly (large spleen) teleangiectasia