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Sialic Acid Storage Disease, Infantile Form



  • This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.[books.google.com]
  • Lefebvre G et al. (1999) Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease. [ ] 5. Mancini GM et al. (1992) Salla disease variant in a Dutch patient.[moldiag.com]
  • Symptoms [ edit ] Symptoms present by eight months of age and are marked by developmental delay followed by neurological complications such as seizures, involuntary eye movements, and ataxia, involuntary muscle movements and failure to gain weight and[en.wikipedia.org]
  • Age of presentation depends on the type of Gaucher disease: type I (most common form) age of presentation varies widely, with the mean age of diagnosis being 21 years of age 6 some patients present in childhood while others remain asymptomatic throughout[radiopaedia.org]
  • Radiographically, hepatomegaly and splenomegaly respond more rapidly than skeletal changes. Glucosylceramide synthase inhibitors are available for patients with Type 1 GD who cannot receive enzyme replacement therapy 8.[radiopaedia.org]
  • Splenomegaly was associated with hepatomegaly except in case 1. Inguinal hernias were found in cases 1 and 3, cardiomegaly in cases 1, 2, and 3, and moderate pericardic effusions in cases 2 and 4.[jmg.bmj.com]
Failure to Thrive
  • […] to thrive ).[en.wikipedia.org]
  • Affected infants have severe developmental delay, hypotonia, and failure to gain weight and grow at the expected rate (failure to thrive).[babymed.com]
  • Symptoms of the condition can vary from case to case but the most common symptoms include severe delays in development, decreased muscle tone, failure to gain weight, failure to thrive, unusual facial features, seizures, malformed bones, enlarged liver[disabilitybenefitscenter.org]
  • The child appeared well but there was a failure to thrive with his weight actually showing progressive decreasing trend. Now the ascites had increased.[slideshare.net]
  • Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years. {ECO:0000269 PubMed:10581036, ECO:0000269 PubMed:10947946}.[genecards.org]
  • Babies with this condition also have and enlarged liver and spleen ( hepatosplenomegaly ) and enlarged heart ( cardiomegaly ). Cause [ edit ] This section is empty.[en.wikipedia.org]
  • They may have unusual facial features that are often described as ""coarse"", bone malformations, hepatosplenomegaly, and cardiomegaly. The abdomen may be swollen due to enlarged internal organs and ascites.[babymed.com]
  • The clinical picture is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly. Death usually occurs in early childhood. Systematic References: 1.[moldiag.com]
  • They may have coarse facial features, seizures, bone malformations, hepatosplenomegaly and cardiomegaly. The abdomen may be swollen due to the enlarged organs and an abnormal buildup of fluid in the abdominal cavity (ascites).[egl-eurofins.com]
  • They may have unusual facial features that are often described as "coarse," seizures, bone malformations, an enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly).[ghr.nlm.nih.gov]
Fair Complexion
  • Abstract We describe two sibs with coarse facies, hepatosplenomegaly, prominent psychomotor retardation and unexpectedly fair complexion.[link.springer.com]
  • Neurogastrointestinal Encephalomyopathy 221 Leigh Syndrome and Mitochondrial Leukoencephalopathies 224 Pyruvate Carboxylase Deficiency 245 Multiple Carboxylase Deficiency 248 Cerebrotendinous Xanthomatosis 252 Cockayne Syndrome 259 Trichothiodystrophy with Photosensitivity[books.google.com]
  • Carboxylase Deficiency 245 Multiple Carboxylase Deficiency 248 Cerebrotendinous Xanthomatosis 252 Cockayne Syndrome 259 Trichothiodystrophy with Photosensitivity 268 PelizaeusMerzbacher Disease and Xlinked Spastic Paraplegia Type 2 272 18q Syndrome 281 Phenylketonuria[books.google.com]
  • Treatment is limited to controlling the symptoms of this disorder such as administering anti-convulsant medication to control seizure episodes.[en.wikipedia.org]
Muscle Tone Abnormalities
  • The intermediate severe form is less severe than the infantile form, but more severe than Salla disease. [1] [2] General symptoms of free sialic acid storage diseases include developmental delay, low muscle tone, abnormal movements, and seizures.[rarediseases.info.nih.gov]


Liver Biopsy
  • Ultrastructural studies of conjunctival, skin, bone marrow and liver biopsies from these individuals showed generalized lysosomal storage of polysaccharidelike material, i.e., membrane bound inclusions containing sparse, fibrillo-granular material.[link.springer.com]


  • Treatment [ edit ] There is no treatment for ISSD. Treatment is limited to controlling the symptoms of this disorder such as administering anti-convulsant medication to control seizure episodes.[en.wikipedia.org]
  • TREATMENT There is no current cure for this disorder. Treatment is supportive and may include physical, occupational and speech therapies; nutrition therapy; and anti-seizure treatment."[babymed.com]
  • He is also director of the Human Gene Therapy Applications Laboratory, the Center for the Study and Treatment of Jewish Genetic Diseases, and the Comprehensive Gaucher Disease Treatment Center.[books.google.com]
  • Treatment is based on the symptoms and maintaining quality of life. People with the least severe form of this disease (Salla disease) can live into adulthood. [1] [2] Last updated: 4/1/2019[rarediseases.info.nih.gov]


  • Enlarged liver/spleen/heart Intermediate Severe Salla Disease Symptoms ranging between those seen in ISSD and Salla Disease Salla Disease Weak muscle tone Intellectual disabilities Developmental delay Difficulty with coordinated movements (ataxia) Seizures PROGNOSIS[evolvegene.com]
  • […] burden (BMB) score may be obtained from MRI images 4 may give a "salt and pepper pattern" due to scattered involvement features of superimposed osteonecrosis metaphyseal notching of humeri pathological fractures Erlenmeyer flask deformity Treatment and prognosis[radiopaedia.org]


  • Relevant External Links for SLC17A5 Genetic Association Database (GAD) SLC17A5 Human Genome Epidemiology (HuGE) Navigator SLC17A5 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SLC17A5 No data available for Genatlas for SLC17A5 Gene A[genecards.org]
  • [Error: Macro 'ref' doesn't exist] Epidemiology Salla disease is common in north-eastern Finnland, an area approximately 100km in diameter. Sporadic cases of Salla disease are observed in other countries.[moldiag.de]
  • Epidemiology Frequency International Sialidosis is a rare disorder that has no racial predilection.[emedicine.medscape.com]
Sex distribution
Age distribution


  • Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology. Prog Nucleic Acid Res Mol Biol. 2001. 69:81-114. [Medline]. Riches WG, Smuckler EA. A severe infantile mucolipidosis.[emedicine.medscape.com]
  • Hoffmann & Markus Ries Genetics in Medicine (2019) Adulthood leukodystrophies Wolfgang Köhler, Julian Curiel & Adeline Vanderver Nature Reviews Neurology (2018) Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic[nature.com]


  • Mutations in the SLC17A5 gene prevent sialin activity and cause a buildup of free sialic acid in the lysosomes. The condition is inherited in an autosomal recessive pattern.[evolvegene.com]
  • In individuals with GSD and related diseases, the missing or insufficient enzyme prevents the proper processing and recycling process.[egl-eurofins.com]
  • Some of these mutations result in sialin that does not function normally; others prevent sialin from being produced. In a few cases, sialin is produced but not routed properly to the lysosomal membrane.[ghr.nlm.nih.gov]
  • The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodexoycholic acid.[msunites.com]
  • In sialidosis, the deficiency of lysosomal alpha- N -acetyl neuraminidase prevents the normal degradation of glycoproteins containing sialic acid residues.[emedicine.medscape.com]

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