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Summary
G(M1)-GANGLIOSIDOSIS, TYPE II. LIPIDOSIS, LATE INFANTILE SYSTEMIC
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II, OR JUVENILE TYPE
230600
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
cerebral atrophy
cherry-red spot on retinal macula
early death
feeding difficulties, poor feeding
hyperacusis
infections (severe or recurrent)
mental retardation
motor retardation
muscular rigidity
myoclonus
neutropenia (decreased neutrophils)
onset, childhood
onset, infancy
progressive neurologic defect
pyramidal signs
seizures
spastic diplegia/quadriplegia
X-ray, abnormalities
laboratory finding
beta-Galactosidase 100.00decreased activityfibroblasts
beta-Galactosidase 100.00decreased activityleucocytes
Oligosaccharides0.000.00 abnormalurineno data
GM1-ganglioside
Lymphocytes, vacuoles blood
Foam cells, bone marrow bone marrow
CT, brain, abnormalities -
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
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994