Carboxylase Deficiency, Multiple, Neonatal Form

The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).

Synonym
Holocarboxylase Synthetase Deficiency
Deficiency, Multiple Carboxylase, Neonatal Form
Early-Onset Combined Carboxylase Deficiency
HLCS Deficiency
Infantile Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency, Neonatal Form
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
Deficiency, Holocarboxylase Synthetase
Carboxylase Deficiency, Multiple, Neonatal Form
Multiple Carboxylase Deficiency, Early Onset

Excerpt	Reference
"HLCS deficiency is a potentially fatal condition if left untreated, although the majority of patients respond to oral supplementation of 10-20 mg/day of biotin."	( Bailey, LM; Ivanov, RA; Jitrapakdee, S; Polyak, SW; Wallace, JC; Wilson, CJ, 2008)

Excerpt	Reference
"We investigated in a patient with holocarboxylase synthetase deficiency, the relation between the biochemical and genetic factors of the mutant protein with the pharmacokinetic factors of successful biotin treatment."	( Barshop, BA; Cervantes-Roldán, R; Chiang, PW; Freehauf, C; Josefsberg, S; León-Del-Río, A; Meneses-Morales, I; Mock, DM; Spector, E; Thomas, JA; Thuy, le P; Van Hove, JL; Woontner, M, 2008)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	0 (0.00)	23.3326
1990's	0 (0.00)	12.5806
2000's	13 (46.43)	18.1394
2010's	6 (21.43)	28.8240
2020's	9 (32.14)	9.53

Drug	Relationship Strength	Studies
acetylcarnitine	low	1
carnitine	low	4
creatine	low	1
pyridoxine	low	1
lysine	low	1
beta-hydroxyisovaleric acid	low	2
valerates	low	2
biotin	medium	25
isomethyleugenol	low	1
tamoxifen	low	1
3-hydroxyisovalerylcarnitine	low	1
cyclic gmp	low	1

Protein Targets (258)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Chain A, Avidin	0	0	1	1
Chain A, Protein (streptavidin)	0	0	1	1
Chain B, Protein (streptavidin)	0	0	1	1
Chain A, Streptavidin	0	0	1	1
Chain D, Streptavidin	0	0	1	1
Chain A, Streptavidin	0	0	1	1
Chain D, Streptavidin	0	0	1	1
Chain A, Streptavidin	0	0	1	1
Chain D, Streptavidin	0	0	1	1
Chain A, Streptavidin Complex With Biotin	0	0	1	1
Chain D, Circularly Permuted Core-streptavidin E51/a46	0	0	1	1
Chain A, Core-streptavidin	0	0	1	1
Chain D, Core-streptavidin	0	0	1	1
Chain A, Core-streptavidin	0	0	1	1
Chain D, Core-streptavidin	0	0	1	1
Chain A, Core-streptavidin	0	0	1	1
Chain D, Core-streptavidin	0	0	1	1
Chain A, Core-streptavidin	0	0	1	1
Chain D, Core-streptavidin	0	0	1	1
Chain A, Avidin	0	0	1	1
Chain A, Streptavidin	0	0	1	1
Chain B, Streptavidin	0	0	1	1
Chain A, Streptavidin	0	0	1	1
Chain B, Streptavidin	0	0	1	1
Chain A, JmjC domain-containing histone demethylation protein 3A	2	0	0	2
RAR-related orphan receptor gamma	2	0	0	2
apical membrane antigen 1, AMA1	2	0	0	2
nonstructural protein 1	0	1	0	1
estrogen nuclear receptor alpha	2	0	0	2
green fluorescent protein, partial	0	1	0	1
vitamin D3 receptor isoform VDRA	2	0	0	2
insulin-degrading enzyme isoform 1	0	0	1	1
Streptavidin	0	0	1	1
Receptor-type tyrosine-protein phosphatase beta	0	0	0	1
Solute carrier family 22 member 5	0	0	0	1
Solute carrier family 22 member 5	0	0	0	1
Bile salt export pump	0	3	0	3
Solute carrier family 22 member 16	0	0	0	1
Solute carrier family 22 member 21	0	0	0	1
Solute carrier family 22 member 5	0	0	0	1
Sodium- and chloride-dependent creatine transporter 1	0	1	0	1
Proton-coupled amino acid transporter 1	0	1	0	1
Phosphodiesterase	0	1	0	1
Multidrug resistance-associated protein 4	0	1	0	2
Multidrug resistance-associated protein 5	0	0	0	1
cGMP-inhibited 3',5'-cyclic phosphodiesterase B	0	1	0	1
cGMP-inhibited 3',5'-cyclic phosphodiesterase A	0	1	0	1
estrogen-related nuclear receptor alpha	2	0	0	2
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast	0	1	0	1
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast	0	1	0	1
potassium voltage-gated channel subfamily H member 2 isoform d	1	0	0	1
Glutathione reductase, mitochondrial	0	2	0	2
Cationic amino acid transporter 3	0	1	0	1
Chain A, HADH2 protein	1	0	0	1
Chain B, HADH2 protein	1	0	0	1
Chain A, 2-oxoglutarate Oxygenase	1	0	0	1
AR protein	2	0	0	2
aldehyde dehydrogenase 1 family, member A1	1	0	0	1
activating transcription factor 6	2	0	0	2
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	1	0	0	1
Pyridoxal kinase	0	0	0	1
Bile salt export pump	0	1	0	1
Chain A, CES1 protein	0	1	0	1
Chain A, Beta-lactamase	1	0	0	1
Chain A, Ferritin light chain	1	0	0	1
acetylcholinesterase	1	0	0	1
phosphopantetheinyl transferase	1	0	0	1
hypoxia-inducible factor 1 alpha subunit	1	0	0	1
SMAD family member 2	1	0	0	1
Fumarate hydratase	1	0	0	1
USP1 protein, partial	1	0	0	1
PPM1D protein	1	0	0	1
SMAD family member 3	1	0	0	1
TDP1 protein	1	0	0	1
GLI family zinc finger 3	1	0	0	1
Microtubule-associated protein tau	1	0	0	1
DNA polymerase III, partial	1	0	0	1
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	1	0	0	1
regulator of G-protein signaling 4	1	0	0	1
glucocorticoid receptor [Homo sapiens]	1	0	0	1
retinoic acid nuclear receptor alpha variant 1	1	0	0	1
retinoid X nuclear receptor alpha	1	0	0	1
farnesoid X nuclear receptor	1	0	0	1
pregnane X nuclear receptor	1	0	0	1
polyprotein	1	0	0	1
67.9K protein	1	0	0	1
glucocerebrosidase	1	0	0	1
bromodomain adjacent to zinc finger domain 2B	1	0	0	1
peroxisome proliferator-activated receptor delta	1	0	0	1
peroxisome proliferator activated receptor gamma	1	0	0	1
vitamin D (1,25- dihydroxyvitamin D3) receptor	1	0	0	1
arylsulfatase A	1	0	0	1
caspase-3	1	0	0	1
IDH1	1	0	0	1
euchromatic histone-lysine N-methyltransferase 2	1	0	0	1
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	1	0	0	1
thyroid stimulating hormone receptor	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
Histone H2A.x	1	0	0	1
Caspase-7	1	0	0	1
Spike glycoprotein	0	0	1	1
Replicase polyprotein 1ab	0	0	1	1
cytochrome P450 2D6 isoform 1	1	0	0	1
NPC intracellular cholesterol transporter 1 precursor	1	0	0	1
cellular tumor antigen p53 isoform a	1	0	0	1
interferon gamma precursor	0	0	0	1
D(1A) dopamine receptor	1	0	0	1
chromobox protein homolog 1	1	0	0	1
transcriptional regulator ERG isoform 3	1	0	0	1
caspase-3	1	0	0	1
thyroid hormone receptor beta isoform 2	1	0	0	1
heat shock protein beta-1	1	0	0	1
ubiquitin-conjugating enzyme E2 N	0	1	0	1
ras-related protein Rab-9A	1	0	0	1
serine/threonine-protein kinase mTOR isoform 1	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 1	1	0	0	1
nuclear receptor ROR-gamma isoform 1	1	0	0	1
geminin	1	0	0	1
cytochrome P450 3A4 isoform 1	1	0	0	1
M-phase phosphoprotein 8	1	0	0	1
streptokinase A precursor	0	0	1	1
lethal factor (plasmid)	1	0	0	1
Gamma-aminobutyric acid receptor subunit pi	1	0	0	1
Polyunsaturated fatty acid lipoxygenase ALOX15B	1	0	0	1
Transmembrane protease serine 2	0	0	1	1
ATP-binding cassette sub-family C member 3	0	1	0	1
5-hydroxytryptamine receptor 4	0	2	0	2
Voltage-dependent calcium channel gamma-2 subunit	1	0	0	1
Serine/threonine-protein kinase D3	0	1	0	1
Epidermal growth factor receptor	0	1	0	1
Interferon beta	1	0	0	1
Estrogen receptor	0	2	1	4
Lysosomal acid glucosylceramidase	0	0	1	1
Receptor tyrosine-protein kinase erbB-2	0	1	0	1
Cellular tumor antigen p53	1	0	0	1
Integrin beta-3	1	0	0	1
Protein kinase C gamma type	0	1	0	1
Protein kinase C alpha type	0	1	0	1
Protein kinase C beta type	0	1	0	1
Estrogen receptor	0	0	1	2
Tyrosine-protein kinase Lck	0	1	0	1
Tyrosine-protein kinase Fyn	0	1	0	1
Progesterone receptor	0	1	0	1
Procathepsin L	0	0	1	1
Aldo-keto reductase family 1 member B1	0	2	0	2
Muscarinic acetylcholine receptor M2	0	2	0	2
Muscarinic acetylcholine receptor M4	0	2	0	2
ATP-dependent translocase ABCB1	0	2	1	3
Integrin alpha-IIb	1	0	0	1
Beta-1 adrenergic receptor	0	2	0	2
Cytochrome P450 3A4	0	1	0	1
Muscarinic acetylcholine receptor M5	0	2	0	2
Alpha-2A adrenergic receptor	0	2	0	2
Protein kinase C delta type	0	1	0	1
Protein kinase C epsilon type	0	1	0	1
Protein kinase C zeta type	0	1	0	1
Polyunsaturated fatty acid 5-lipoxygenase	0	1	0	1
Replicase polyprotein 1a	0	0	1	1
Replicase polyprotein 1ab	0	0	1	1
Replicase polyprotein 1ab	0	0	1	1
Adenosine receptor A3	0	2	0	2
Replicase polyprotein 1ab	0	0	1	1
Muscarinic acetylcholine receptor M1	0	2	0	2
Steroid hormone receptor ERR1	0	1	0	1
Transcriptional activator protein LuxR	0	1	0	1
Angiotensin-converting enzyme	0	2	0	2
Beta-3 adrenergic receptor	0	2	0	2
D(2) dopamine receptor	0	2	0	2
Androgen receptor	0	2	0	2
Gamma-aminobutyric acid receptor subunit beta-1	1	0	0	1
Alpha-1B adrenergic receptor	0	2	0	2
Protein kinase C alpha type	0	1	0	1
Alpha-2B adrenergic receptor	0	2	0	2
Gamma-aminobutyric acid receptor subunit delta	1	0	0	1
Gamma-aminobutyric acid receptor subunit gamma-2	1	0	0	1
5-hydroxytryptamine receptor 1A	0	2	0	2
Glutamate receptor 2	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-5	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-3	1	0	0	1
Muscarinic acetylcholine receptor M3	0	2	0	2
Cytochrome P450 2B6	0	1	0	1
Substance-K receptor	0	2	0	2
D(1A) dopamine receptor	0	2	0	2
D(4) dopamine receptor	0	2	0	2
UDP-glucuronosyltransferase 1A4	0	0	0	1
Prostaglandin G/H synthase 1	0	1	0	1
Gamma-aminobutyric acid receptor subunit gamma-1	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-2	1	0	0	1
Sodium-dependent noradrenaline transporter	0	2	0	2
Thromboxane-A synthase	0	1	0	1
Protein kinase C eta type	0	1	0	1
Histamine H2 receptor	0	2	0	2
Alpha-1D adrenergic receptor	0	2	0	2
Substance-P receptor	0	2	0	2
5-hydroxytryptamine receptor 2A	0	2	0	2
5-hydroxytryptamine receptor 2C	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-4	1	0	0	1
Gamma-aminobutyric acid receptor subunit gamma-3	1	0	0	1
5-hydroxytryptamine receptor 1B	0	2	0	2
Adenosine receptor A2a	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-6	1	0	0	1
B2 bradykinin receptor	0	2	0	2
Adenosine receptor A1	0	2	0	2
Sodium-dependent serotonin transporter	0	2	0	2
Melanocortin receptor 4	0	2	0	2
C-8 sterol isomerase	0	1	0	1
Melanocortin receptor 5	0	2	0	2
Mu-type opioid receptor	0	2	0	2
D(3) dopamine receptor	0	2	0	2
Alpha-synuclein	1	0	0	1
Delta-type opioid receptor	0	2	0	2
Kappa-type opioid receptor	0	2	0	2
5-hydroxytryptamine receptor 2B	0	2	0	2
Protein kinase C iota type	0	1	0	1
Melanocortin receptor 3	0	2	0	2
Alpha-1A adrenergic receptor	0	2	0	2
Histamine H2 receptor	1	0	0	1
D(1A) dopamine receptor	1	0	0	1
5-hydroxytryptamine receptor 6	0	2	0	2
Spike glycoprotein	0	0	1	1
Estrogen-related receptor gamma	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-1	1	0	0	1
Gamma-aminobutyric acid receptor subunit beta-3	1	0	0	1
Gamma-aminobutyric acid receptor subunit beta-2	1	0	0	1
Protein kinase C gamma type	0	1	0	1
Protein kinase C beta type	0	1	0	1
Phospholipase D1	0	1	0	1
Sodium-dependent dopamine transporter	0	2	0	2
Protein kinase C epsilon type	0	1	0	1
Protein kinase C theta type	0	1	0	1
Protein kinase C zeta type	0	1	0	1
Protein kinase C delta type	0	1	0	1
Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform	0	1	0	1
Potassium voltage-gated channel subfamily H member 2	0	2	0	2
Platelet-activating factor acetylhydrolase	0	1	0	1
Phospholipase D1	0	1	0	1
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	0	2	1	3
Serine/threonine-protein kinase D1	0	1	0	1
Estrogen receptor beta	0	0	1	2
Protein kinase C eta type	0	1	0	1
Nuclear receptor subfamily 3 group C member 3	0	2	0	2
GABA theta subunit	1	0	0	1
Estrogen receptor beta	0	2	1	3
Canalicular multispecific organic anion transporter 1	0	1	0	1
ATPase family AAA domain-containing protein 5	1	0	0	1
Ataxin-2	1	0	0	1
Sigma non-opioid intracellular receptor 1	0	2	0	2
Emopamil-binding protein-like	0	1	0	1
Angiotensin-converting enzyme 2	0	0	1	1
Gamma-aminobutyric acid receptor subunit epsilon	1	0	0	1
7-dehydrocholesterol reductase	0	1	1	2
Protein kinase C theta type	0	1	0	1
Carbonic anhydrase	0	1	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Carboxylase Deficiency, Multiple, Neonatal Form

Synonyms(10)

Research Excerpts

Overview

Treatment

Research

Studies (28)

Protein Targets (258)

Carboxylase Deficiency, Multiple, Neonatal Form

Synonyms(10)

Research Excerpts

Overview

Treatment

Research

Studies (28)

Drugs Studied (13)

Protein Targets (258)