Page last updated: 2024-09-27

Juvenile Sulfatidosis

An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.

Synonyms(7)

Synonym
Multiple Sulfatase Deficiency
Mucosulfatidosis
Juvenile Sulfatidosis
Sulfatidosis, Juvenile, Austin Type
Sulfatidosis Juvenile, Austin Type
Multiple Sulphatase Deficiency Disease
Multiple Sulfatase Deficiency Disease

Research Excerpts

Overview

ExcerptReference
"Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder characterized by the absence of several sulfatases and resulting from mutations in the gene encoding the human C (alpha)-formylglycine-generating enzyme."( Harasink, SM; Khurana, DS; Legido, A; Melvin, JJ; Miskin, C; Wenger, DA, 2016)

Research

Studies (15)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's3 (20.00)18.1394
2010's6 (40.00)28.8240
2020's6 (40.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
glycine0low80
acetyl-dl-leucine0low20
tazarotene0low10
arginine0low10
pyrroles0low10
n-formylglycine0low70
bexarotene0low10
dermatan sulfate0low10
su 54020low10
i(3)so3-galactosylceramide0low10
cytochrome c-t0low10
heparitin sulfate0low10

Protein Targets (138)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
chromobox protein homolog 12002
geminin2002
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
thioredoxin reductase1001
phosphopantetheinyl transferase1001
NFKB1 protein, partial1001
GLS protein1001
thyroid stimulating hormone receptor1001
alpha-galactosidase1001
euchromatic histone-lysine N-methyltransferase 22002
cytochrome P450 2C19 precursor1001
flap endonuclease 11001
DNA polymerase iota isoform a (long)1001
muscarinic acetylcholine receptor M11001
lethal factor (plasmid)1001
Cytochrome P450 3A40102
Nitric oxide synthase, endothelial0002
Nitric oxide synthase, brain0001
Nitric oxide synthase, brain 0001
Nitric oxide synthase, inducible0001
Nitric oxide synthase, inducible0013
Cationic amino acid transporter 30101
ATP-dependent phosphofructokinase1001
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
Luciferase1001
hypoxia-inducible factor 1 alpha subunit1001
RAR-related orphan receptor gamma2002
SMAD family member 22002
Fumarate hydratase1001
USP1 protein, partial2002
PPM1D protein2002
SMAD family member 32002
TDP1 protein2002
GLI family zinc finger 31001
AR protein3003
caspase 7, apoptosis-related cysteine protease1001
estrogen receptor 2 (ER beta)1001
nuclear receptor subfamily 1, group I, member 31001
progesterone receptor2002
cytochrome P450 family 3 subfamily A polypeptide 42002
EWS/FLI fusion protein2002
glucocorticoid receptor [Homo sapiens]1001
retinoic acid nuclear receptor alpha variant 12002
retinoid X nuclear receptor alpha2002
estrogen-related nuclear receptor alpha2002
farnesoid X nuclear receptor2002
pregnane X nuclear receptor2002
estrogen nuclear receptor alpha2002
G1001
polyprotein1001
peroxisome proliferator-activated receptor delta2002
peroxisome proliferator activated receptor gamma2002
vitamin D (1,25- dihydroxyvitamin D3) receptor2002
caspase-31001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a2002
thyroid stimulating hormone receptor2002
activating transcription factor 61001
thyrotropin-releasing hormone receptor1001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
v-jun sarcoma virus 17 oncogene homolog (avian)1001
nuclear receptor subfamily 1, group I, member 22002
Histone H2A.x2002
Caspase-71001
Bloom syndrome protein isoform 11001
vitamin D3 receptor isoform VDRA1001
caspase-31001
thyroid hormone receptor beta isoform 22002
heat shock protein beta-11001
nuclear factor erythroid 2-related factor 2 isoform 12002
nuclear receptor ROR-gamma isoform 11001
peripheral myelin protein 222002
histone acetyltransferase KAT2A isoform 11001
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40202
Cytochrome P450 26A10101
Voltage-dependent calcium channel gamma-2 subunit2002
Bile salt export pump0202
Interferon beta2002
HLA class I histocompatibility antigen, B alpha chain 1001
Cellular tumor antigen p532002
Cytochrome P450 1A20101
Retinoic acid receptor alpha0134
Retinoic acid receptor beta0134
Retinoic acid receptor gamma 0134
Glutamate receptor 22002
Retinoic acid receptor RXR-alpha0225
Retinoic acid receptor RXR-alpha0011
Retinoic acid receptor RXR-beta0112
Retinoic acid receptor RXR-beta0022
Retinoic acid receptor RXR-gamma0022
Type-1 angiotensin II receptor0011
Nuclear receptor subfamily 4 group A member 20011
Retinoic acid receptor RXR-gamma0112
Type-2 angiotensin II receptor0011
Oxysterols receptor LXR-beta0011
Spike glycoprotein1001
Retinoic acid receptor RXR-alpha0011
Oxysterols receptor LXR-alpha0011
Sigma non-opioid intracellular receptor 10101
Inositol hexakisphosphate kinase 11001
Canalicular multispecific organic anion transporter 10202
ATPase family AAA domain-containing protein 51001
Ataxin-21001
Cytochrome P450 26B10101
cytochrome P450 2C9, partial1001
Glycine receptor subunit alpha-10011
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Glutamate receptor ionotropic, NMDA 1 0213
Sodium- and chloride-dependent glycine transporter 10101
Glutamate receptor ionotropic, NMDA 2A 0213
Glutamate receptor ionotropic, NMDA 2B0213
Glutamate receptor ionotropic, NMDA 2C0213
Large neutral amino acids transporter small subunit 10101
Glutamate receptor ionotropic, NMDA 2D0213
Proton-coupled amino acid transporter 10101
Glutamate receptor ionotropic, NMDA 3B0213
Serine racemase0101
Olfactory receptor 51E20011
Glutamate receptor ionotropic, NMDA 3A0213
Sodium- and chloride-dependent glycine transporter 20101
Epidermal growth factor receptor0101
Receptor tyrosine-protein kinase erbB-20101
Insulin-like growth factor 1 receptor0101
Platelet-derived growth factor receptor beta0101
Fibroblast growth factor receptor 10101
Proto-oncogene tyrosine-protein kinase Src0101
Fibroblast growth factor receptor 10101
Vascular endothelial growth factor receptor 20101
Vascular endothelial growth factor receptor 10101
Mu-type opioid receptor0101
acetylcholinesterase1001
potassium voltage-gated channel subfamily H member 2 isoform d1001
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]