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Summary
G(M1)-GANGLIOSIDOSIS, TYPE III. CHRONIC/ADULT TYPE
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III, OR ADULT TYPE
230650
OMIM = Online Medalian Inheritance of Men
354
3p22.3
  • no specific treatment
  • supportive/symptomatic therapy
rare
autosomal recessive
- infantile form Type I  
- late infantile/juvenile form Type II
- adult/chronic form Type III
symptoms
ataxia
corneal deposits
dysarthria
dysmorphism
dystonia
grimacing
mental retardation
onset, adulthood
onset, childhood
Parkinsonism
laboratory finding
beta-Galactosidase 100.00decreased activityfibroblasts
beta-Galactosidase 100.00decreased activityleucocytes
Lymphocytes, vacuoles blood
MRI, brain, abnormalities -
Literature
Martinelli D,et al.Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginineJ Inherit Metab Dis355761-7762012
Wanders RJA,et al.3-HYDROXYISOBUTYRIC ACID DEHYDROGENASE DEFICIENCY: IDENTIFICATION OF A NEW INBOR ERROR OF VALINE METABOLISMJ Inherit Metab Dis (SSIEM 2012 Birmingham)351S12012
Crawhall JCA review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiencyClin Biochem183139-1421985
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991