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

Excerpt	Reference
"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)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	0 (0.00)	23.3326
1990's	0 (0.00)	12.5806
2000's	3 (20.00)	18.1394
2010's	6 (40.00)	28.8240
2020's	6 (40.00)	9.53

Drug	Relationship Strength	Studies
glycine	low	8
acetyl-dl-leucine	low	2
tazarotene	low	1
arginine	low	1
pyrroles	low	1
n-formylglycine	low	7
bexarotene	low	1
dermatan sulfate	low	1
su 5402	low	1
i(3)so3-galactosylceramide	low	1
cytochrome c-t	low	1
heparitin sulfate	low	1

Protein Targets (138)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
chromobox protein homolog 1	2	0	0	2
geminin	2	0	0	2
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	1	0	0	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
thioredoxin reductase	1	0	0	1
phosphopantetheinyl transferase	1	0	0	1
NFKB1 protein, partial	1	0	0	1
GLS protein	1	0	0	1
thyroid stimulating hormone receptor	1	0	0	1
alpha-galactosidase	1	0	0	1
euchromatic histone-lysine N-methyltransferase 2	2	0	0	2
cytochrome P450 2C19 precursor	1	0	0	1
flap endonuclease 1	1	0	0	1
DNA polymerase iota isoform a (long)	1	0	0	1
muscarinic acetylcholine receptor M1	1	0	0	1
lethal factor (plasmid)	1	0	0	1
Cytochrome P450 3A4	0	1	0	2
Nitric oxide synthase, endothelial	0	0	0	2
Nitric oxide synthase, brain	0	0	0	1
Nitric oxide synthase, brain	0	0	0	1
Nitric oxide synthase, inducible	0	0	0	1
Nitric oxide synthase, inducible	0	0	1	3
Cationic amino acid transporter 3	0	1	0	1
ATP-dependent phosphofructokinase	1	0	0	1
Chain A, ATP-DEPENDENT DNA HELICASE Q1	1	0	0	1
Luciferase	1	0	0	1
hypoxia-inducible factor 1 alpha subunit	1	0	0	1
RAR-related orphan receptor gamma	2	0	0	2
SMAD family member 2	2	0	0	2
Fumarate hydratase	1	0	0	1
USP1 protein, partial	2	0	0	2
PPM1D protein	2	0	0	2
SMAD family member 3	2	0	0	2
TDP1 protein	2	0	0	2
GLI family zinc finger 3	1	0	0	1
AR protein	3	0	0	3
caspase 7, apoptosis-related cysteine protease	1	0	0	1
estrogen receptor 2 (ER beta)	1	0	0	1
nuclear receptor subfamily 1, group I, member 3	1	0	0	1
progesterone receptor	2	0	0	2
cytochrome P450 family 3 subfamily A polypeptide 4	2	0	0	2
EWS/FLI fusion protein	2	0	0	2
glucocorticoid receptor [Homo sapiens]	1	0	0	1
retinoic acid nuclear receptor alpha variant 1	2	0	0	2
retinoid X nuclear receptor alpha	2	0	0	2
estrogen-related nuclear receptor alpha	2	0	0	2
farnesoid X nuclear receptor	2	0	0	2
pregnane X nuclear receptor	2	0	0	2
estrogen nuclear receptor alpha	2	0	0	2
G	1	0	0	1
polyprotein	1	0	0	1
peroxisome proliferator-activated receptor delta	2	0	0	2
peroxisome proliferator activated receptor gamma	2	0	0	2
vitamin D (1,25- dihydroxyvitamin D3) receptor	2	0	0	2
caspase-3	1	0	0	1
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	1	0	0	1
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	2	0	0	2
thyroid stimulating hormone receptor	2	0	0	2
activating transcription factor 6	1	0	0	1
thyrotropin-releasing hormone receptor	1	0	0	1
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	1	0	0	1
v-jun sarcoma virus 17 oncogene homolog (avian)	1	0	0	1
nuclear receptor subfamily 1, group I, member 2	2	0	0	2
Histone H2A.x	2	0	0	2
Caspase-7	1	0	0	1
Bloom syndrome protein isoform 1	1	0	0	1
vitamin D3 receptor isoform VDRA	1	0	0	1
caspase-3	1	0	0	1
thyroid hormone receptor beta isoform 2	2	0	0	2
heat shock protein beta-1	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 1	2	0	0	2
nuclear receptor ROR-gamma isoform 1	1	0	0	1
peripheral myelin protein 22	2	0	0	2
histone acetyltransferase KAT2A isoform 1	1	0	0	1
ATP-binding cassette sub-family C member 3	0	2	0	2
Multidrug resistance-associated protein 4	0	2	0	2
Cytochrome P450 26A1	0	1	0	1
Voltage-dependent calcium channel gamma-2 subunit	2	0	0	2
Bile salt export pump	0	2	0	2
Interferon beta	2	0	0	2
HLA class I histocompatibility antigen, B alpha chain	1	0	0	1
Cellular tumor antigen p53	2	0	0	2
Cytochrome P450 1A2	0	1	0	1
Retinoic acid receptor alpha	0	1	3	4
Retinoic acid receptor beta	0	1	3	4
Retinoic acid receptor gamma	0	1	3	4
Glutamate receptor 2	2	0	0	2
Retinoic acid receptor RXR-alpha	0	2	2	5
Retinoic acid receptor RXR-alpha	0	0	1	1
Retinoic acid receptor RXR-beta	0	1	1	2
Retinoic acid receptor RXR-beta	0	0	2	2
Retinoic acid receptor RXR-gamma	0	0	2	2
Type-1 angiotensin II receptor	0	0	1	1
Nuclear receptor subfamily 4 group A member 2	0	0	1	1
Retinoic acid receptor RXR-gamma	0	1	1	2
Type-2 angiotensin II receptor	0	0	1	1
Oxysterols receptor LXR-beta	0	0	1	1
Spike glycoprotein	1	0	0	1
Retinoic acid receptor RXR-alpha	0	0	1	1
Oxysterols receptor LXR-alpha	0	0	1	1
Sigma non-opioid intracellular receptor 1	0	1	0	1
Inositol hexakisphosphate kinase 1	1	0	0	1
Canalicular multispecific organic anion transporter 1	0	2	0	2
ATPase family AAA domain-containing protein 5	1	0	0	1
Ataxin-2	1	0	0	1
Cytochrome P450 26B1	0	1	0	1
cytochrome P450 2C9, partial	1	0	0	1
Glycine receptor subunit alpha-1	0	0	1	1
Sodium- and chloride-dependent GABA transporter 2	0	1	0	1
Sodium- and chloride-dependent GABA transporter 3	0	1	0	1
Glutamate receptor ionotropic, NMDA 1	0	2	1	3
Sodium- and chloride-dependent glycine transporter 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	2	1	3
Glutamate receptor ionotropic, NMDA 2B	0	2	1	3
Glutamate receptor ionotropic, NMDA 2C	0	2	1	3
Large neutral amino acids transporter small subunit 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 2D	0	2	1	3
Proton-coupled amino acid transporter 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 3B	0	2	1	3
Serine racemase	0	1	0	1
Olfactory receptor 51E2	0	0	1	1
Glutamate receptor ionotropic, NMDA 3A	0	2	1	3
Sodium- and chloride-dependent glycine transporter 2	0	1	0	1
Epidermal growth factor receptor	0	1	0	1
Receptor tyrosine-protein kinase erbB-2	0	1	0	1
Insulin-like growth factor 1 receptor	0	1	0	1
Platelet-derived growth factor receptor beta	0	1	0	1
Fibroblast growth factor receptor 1	0	1	0	1
Proto-oncogene tyrosine-protein kinase Src	0	1	0	1
Fibroblast growth factor receptor 1	0	1	0	1
Vascular endothelial growth factor receptor 2	0	1	0	1
Vascular endothelial growth factor receptor 1	0	1	0	1
Mu-type opioid receptor	0	1	0	1
acetylcholinesterase	1	0	0	1
potassium voltage-gated channel subfamily H member 2 isoform d	1	0	0	1
histone-lysine N-methyltransferase 2A isoform 2 precursor	1	0	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

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