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Summary
SIALIC ACID STORAGE DISEASE, INFANTILE TYPE
INFANTILE SIALIC ACID STORAGE DISORDER
269920
OMIM = Online Medalian Inheritance of Men
309324
6q13
  • no specific treatment
rare
autosomal recessive
symptoms
ascites
cardiomegaly
diarrhea
dysmorphism
dysostosis multiplex
early death
edema
epicanthus or medial eyelid fold
failure to thrive
hair, abnormal (thin, brittle)
hepatomegaly (large liver)
hernia
hydrops fetalis
hypertonia, spasticity
hypopigmentation
hypotonia
mental retardation
nephrosis
nystagmus
onset, fetus
onset, newborn
Organic acids, urine
skin, pigmentation
splenomegaly (large spleen)
X-ray, abnormalities
laboratory finding
Sialic acid700.0014000.007.0028.00nmol/mg creatinineurine
Sialic acid increasedfibroblasts
MRI, brain, abnormalities -
Lymphocytes, vacuoles blood
Electron microscopy -
conjunctival biopsy, enlarged lysosomes abnormal
Literature
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Haan EAet al.Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defectEur J Pediatr1440567-5701986
Chen Y-TBurchell AGlycogen storage diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.10935-9651995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Baric Iet al.Diagnosis and management of glutaric aciduria tye IJ Inherit Metab Dis214326-3401998
Gregg ARet al.Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologiesJ Inherit Metab Dis214382-3901998