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Summary
SALLA DISEASE
SIALIC ACID STORAGE DISEASE
604369
OMIM = Online Medalian Inheritance of Men
834
6q14-15
  • no specific treatment
rare (~ 90 cases, 1:7000 northern Finland) autosomal recessive
symptoms
ataxia
athetosis
coarse facial features
growth retardation
hypotonia
mental retardation
motor retardation
normal at birth
nystagmus
onset, child
seizures
speech development, delayed, abnormal
laboratory finding
Sialic acid700.002100.00100.00650.00nmol/mg creatinineurine
Sialic acid increasedfibroblasts
MRI, brain, abnormalities -
EEG abnormalities -
N-Acetylneuraminic acid0.000.00 increasedurineno data
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
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