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Summary
G(M1)-GANGLIOSIDOSIS, TYPE I. PSEUDO-HURLER-DISEASE
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
230500
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
typical dysmorphic expressions are not always obvious in infantile patients
symptoms
angiokeratoma
broad forehead (wide)
cardiomegaly
cerebral atrophy
cherry-red spot on retinal macula
corneal clouding
corneal deposits
dysmorphism
early death
flattened nose
frontal bossing
gingiva, hyperplastic
growth retardation
hepatomegaly (large liver)
hydrops fetalis
hypertrichosis
infections (severe or recurrent)
kyphoskoliosis
low set ears
macroglossia, large/protuding tongue
mental retardation
mongolian spots
onset, infancy
optic atrophy
progressive neurologic defect
seizures
skin, abnormal
skin, thickened
splenomegaly (large spleen)
teleangiectasia
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
CT, brain, abnormalities -
Foam cells, bone marrow bone marrow
MRI, brain, abnormalities -
D-Galactonic acid1.005.00 mmol/mol creatinineurineno data
Literature
Nanda SK,et al.Cerebro-spinal and renal ochronosis: A rare case reportIndian J Clin Biochem2522010
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
Koene S,et al.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 casesJ Inherit Metab Dis355737-7472012
Tabatabaie L,et al.L-serine synthesis in the central nervous system: a review on serine deficiency disordersMol Genet Metab993256-2622010
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
Croffie JMGupta SK, Chong SK, Fitzgerald JF Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failurePediatrics1033675-6781999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Alkhayat AHet al.Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosisHum Mol Genet7175-831998