Neonatal manifestation of multiple sulfatase deficiency

Busche A, Hennermann JB, Buerger F, Proquitte H, Dierks T, von Arnim-Baas A, Horn D (2009)

Zeitschriftenaufsatz | Veröffentlicht | Englisch
Es wurden keine Dateien hochgeladen. Nur Publikationsnachweis!
Busche, Andreas; Hennermann, Julia B.; Buerger, Friederike; Proquitte, Hans; Dierks, ThomasUniBi; von Arnim-Baas, Annabel; Horn, Denise
Abstract / Bemerkung
Introduction Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. Case report We report clinical, biochemical, and molecular findings in a female newborn affected with a severe form of multiple sulfatase deficiency (Mendelian Inheritance in Man (MIM) # 272200). She presented with primary microcephaly, facial anomalies including depressed nasal bridge, nasal hypoplasia, anteverted nostrils, smooth philtrum, limited mobility of hip and knee joints, mild ichthyosis, as well as muscular hypotonia. The diagnosis is based on detection of excessive mucopolysacchariduria and enzymatic assays performed in leucocytes which showed complete deficiency of all of the measured sulfatases. Sequencing of the coding region of the underlying gene, SUMF1, could not identify any mutation. However, failure to detect the corresponding mRNA by reverse transcription polymerase chain reaction proves defective SUMF1 expression. Conclusion The diagnosis of neonatal MSD should be considered when dealing with the association of distinct facial anomalies, limited joint mobility, ichthyosis, and muscular hypotonia.
Mucopolysacchariduria; Metabolic disease; SUMF1; MSD
Page URI


Busche A, Hennermann JB, Buerger F, et al. Neonatal manifestation of multiple sulfatase deficiency. EUROPEAN JOURNAL OF PEDIATRICS. 2009;168(8):969-973.
Busche, A., Hennermann, J. B., Buerger, F., Proquitte, H., Dierks, T., von Arnim-Baas, A., & Horn, D. (2009). Neonatal manifestation of multiple sulfatase deficiency. EUROPEAN JOURNAL OF PEDIATRICS, 168(8), 969-973.
Busche, A., Hennermann, J. B., Buerger, F., Proquitte, H., Dierks, T., von Arnim-Baas, A., and Horn, D. (2009). Neonatal manifestation of multiple sulfatase deficiency. EUROPEAN JOURNAL OF PEDIATRICS 168, 969-973.
Busche, A., et al., 2009. Neonatal manifestation of multiple sulfatase deficiency. EUROPEAN JOURNAL OF PEDIATRICS, 168(8), p 969-973.
A. Busche, et al., “Neonatal manifestation of multiple sulfatase deficiency”, EUROPEAN JOURNAL OF PEDIATRICS, vol. 168, 2009, pp. 969-973.
Busche, A., Hennermann, J.B., Buerger, F., Proquitte, H., Dierks, T., von Arnim-Baas, A., Horn, D.: Neonatal manifestation of multiple sulfatase deficiency. EUROPEAN JOURNAL OF PEDIATRICS. 168, 969-973 (2009).
Busche, Andreas, Hennermann, Julia B., Buerger, Friederike, Proquitte, Hans, Dierks, Thomas, von Arnim-Baas, Annabel, and Horn, Denise. “Neonatal manifestation of multiple sulfatase deficiency”. EUROPEAN JOURNAL OF PEDIATRICS 168.8 (2009): 969-973.

9 Zitationen in Europe PMC

Daten bereitgestellt von Europe PubMed Central.

Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.
Hijazi L, Kashgari A, Alfadhel M., J Child Neurol 33(13), 2018
PMID: 30124108
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency.
Incecik F, Herguner OM., Acta Neurol Belg 117(3), 2017
PMID: 28032298
Astrocytes and lysosomal storage diseases.
Rama Rao KV, Kielian T., Neuroscience 323(), 2016
PMID: 26037807
Lysosomal Storage Diseases-Regulating Neurodegeneration.
Onyenwoke RU, Brenman JE., J Exp Neurosci 9(suppl 2), 2015
PMID: 27081317
Effect of Vitamin E Administration on Learning of the Young Male Rats.
Dolu N, Khan A, Dokutan Ş., J Exp Neurosci 9(), 2015
PMID: 26380558
Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.
von der Hagen M, Pivarcsi M, Liebe J, von Bernuth H, Didonato N, Hennermann JB, Bührer C, Wieczorek D, Kaindl AM., Dev Med Child Neurol 56(8), 2014
PMID: 24617602
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Prasad C, Rupar CA, Campbell C, Napier M, Ramsay D, Tay KY, Sharan S, Prasad AN., Can J Neurol Sci 41(5), 2014
PMID: 25373814
Care of the newborn with ichthyosis.
Dyer JA, Spraker M, Williams M., Dermatol Ther 26(1), 2013
PMID: 23384016
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Schlotawa L, Ennemann EC, Radhakrishnan K, Schmidt B, Chakrapani A, Christen HJ, Moser H, Steinmann B, Dierks T, Gärtner J., Eur J Hum Genet 19(3), 2011
PMID: 21224894

16 References

Daten bereitgestellt von Europe PubMed Central.

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A., Hum. Mutat. 28(9), 2007
PMID: 17657824
Multiple sulphatase deficiency presenting at birth.
Burch M, Fensom AH, Jackson M, Pitts-Tucker T, Congdon PJ., Clin. Genet. 30(5), 1986
PMID: 3100114
Early manifestations of multiple sulfatase deficiency.
Burk RD, Valle D, Thomas GH, Miller C, Moser A, Moser H, Rosenbaum KN., J. Pediatr. 104(4), 1984
PMID: 6142938
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A., Cell 113(4), 2003
PMID: 12757706
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A., Hum. Mutat. 23(6), 2004
PMID: 15146462
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.
Diaz-Font A, Santamaria R, Cozar M, Blanco M, Chamoles N, Coll MJ, Chabas A, Vilageliu L, Grinberg D., Mol. Genet. Metab. 86(1-2), 2005
PMID: 16125993
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.
Dierks T, Dickmanns A, Preusser-Kunze A, Schmidt B, Mariappan M, von Figura K, Ficner R, Rudolph MG., Cell 121(4), 2005
PMID: 15907468
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K., Cell 113(4), 2003
PMID: 12757705

JJ, 2001
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
Sardiello M, Annunziata I, Roma G, Ballabio A., Hum. Mol. Genet. 14(21), 2005
PMID: 16174644
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.
Schmidt B, Selmer T, Ingendoh A, von Figura K., Cell 82(2), 1995
PMID: 7628016
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
Settembre C, Annunziata I, Spampanato C, Zarcone D, Cobellis G, Nusco E, Zito E, Tacchetti C, Cosma MP, Ballabio A., Proc. Natl. Acad. Sci. U.S.A. 104(11), 2007
PMID: 17360554
Multiple sulphatase deficiency with early onset.
Vamos E, Liebaers I, Bousard N, Libert J, Perlmutter N., J. Inherit. Metab. Dis. 4(2), 1981
PMID: 6115093


Markieren/ Markierung löschen
Markierte Publikationen

Open Data PUB

Web of Science

Dieser Datensatz im Web of Science®


PMID: 19066960
PubMed | Europe PMC

Suchen in

Google Scholar