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Summary
GALACTOSIALIDOSIS
GOLDBERG SYNDROME NEURAMINIDASE DEFICIENCY GALACTOSIALIDOSIS
256540
OMIM = Online Medalian Inheritance of Men
351
20q13.12

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
rare
autosomal recessive
mutation in the CTSA gene
3 forms:
- early infantile
- late infantile
- juvenile/adult
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
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, infancy
onset, neonatal
pain, extremities (acroparesthesia)
seizures
skeletal changes, skeletal abnormalities
splenomegaly (large spleen)
teleangiectasia
laboratory finding
beta-Galactosidase 100.00decreased activityfibroblasts
beta-Galactosidase 100.00decreased activityleucocytes
Neuraminidase 100.00decreased activityfibroblasts
Neuraminidase 100.00decreased activityleucocytes
Sialyloligosaccharides increasedurine
Protein 50.0080.00increasedurine
Lymphocytes, vacuoles blood
Oligosaccharides0.000.00 abnormalurineno data
Chitotriosidase increased activityplasma
Literature
Wortmann SB,et al.Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureJ Inherit Metab Dis002013
Wortmann SB,et al.Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureJ Inherit Metab Dis002013
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Wortmann SB,et al.Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureJ Inherit Metab Dis002013
Jafari P,et al.Ammonium Accumulation and Cell Death in a Rat 3D Brain Cell Model of Glutaric Aciduria Type IPLoS One812013
Wortmann SB,et al.Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureJ Inherit Metab Dis002013
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
Wortmann SB,et al.Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureJ Inherit Metab Dis002013