Synonym(s)
Austin type; Juvenile mucosulfatidosis; MSD; Multiple sulfatase deficiency; multiple sulphatase deficiency; OMIM 272200
HistoryThis section has been translated automatically.
Mossakowski et al, 1961; Austin et al, 1963
DefinitionThis section has been translated automatically.
Extremely rare neuropaediatric disease with mostly discrete ichthyosis. Clinically, the combination of features of metachromatic leukodystrophy and hereditary mucopolysaccharidoses is the main focus.
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Occurrence/EpidemiologyThis section has been translated automatically.
One of the rarest lysosomal storage diseases of all. Frequency of occurrence: 1-1.4/1 million live births.
EtiopathogenesisThis section has been translated automatically.
Autosomal recessive inherited disorder of the SUMF1 gene (gene locus: 3p26) with consecutive defect of the FGE sulfatase-modifying factor-1, which leads to an accelerated degradation of different sulfatases. As a result, 7 different sulfatases are affected, such as arylsulfatase A, arylsulfatase B and steroid sulfatase. This leads to excessive accumulation of mucopolysaccharides and sulfatides in various body tissues and in urine.
ManifestationThis section has been translated automatically.
No sex preference.
Clinical featuresThis section has been translated automatically.
Severe neuropaediatric disease with psychomotor retardation, growth retardation with bony changes, as typical for hereditary mucopolysaccharidoses. Severe metachromatic degeneration of myelin of peripheral nerves. Only discreet signs of ichthyosis.
TherapyThis section has been translated automatically.
A causal therapy is not possible. Symptomatic therapy of ichthyosis.
LiteratureThis section has been translated automatically.
- Austin JH, Bischel M (1961) A histochemical method for sulfatase activity in hemic cells and organ imprints. Blood 17: 216-224
- Austin JH et al (1963) A controlled study of enzymic activities in three human disorders og glycolipid metabolism. J Neurochem 10: 805-816
- Austin JH (1965) Metachromatic leukodystrophy. In: Carter CC Medical Aspects of Mental Retardation. Charles C Thomas (pub.), Springfield, Ill, Pp. 768 only
- Blanco-Aguirre ME et al (2001) Unusual clinical presentation in two cases of multiple sulfatase deficiency. Pediatric Dermatol 18: 388-392
- Castano Suarez E et al (1997) Ichthyosis: the skin manifestation of multiple sulfatase deficiency. Pediatric dermatol 14: 369-372
- Cosma MP et al (2004) Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum mutation 23: 576-581
- Cosma MP et al (2003) The multiple sulfatase deficiency gene codes an essential and limiting factor for the activity of sulfatases. Cell 113: 445-456
- Dierks T et al (2003) Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzymes. Cell 113: 435-444
- Horwitz AL et al (1986) Rapid degradation of steroid sulfatase into multiple sulfatase deficiency. Biochem Biophys Res Commun 135: 389-396
- Jari SD et al (2004) Association of undetectable unconjugated estriol on multiple marker screening with steroid sulfatase deficiency. Fetal Diagn Ther 19: 43-48
- Mossakowski M, Mathieson G, Cumings JN ( 1961 ) On the relationship of metachromatic leucodystrophy and amaurotic idiocy. Brain 84: 585-604
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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer