Carboxylase Deficiency, Combined

A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.

Synonym
Carboxylase Deficiency, Multiple
Combined Carboxylase Deficiency
Carboxylase Deficiency, Combined
Deficiency, Combined Carboxylase
Deficiency, Multiple Carboxylase
Multiple Carboxylase Deficiency

Excerpt	Reference
"Multiple carboxylase deficiency has been treated successfully in utero by giving the mother biotin supplements."	( Levy, HL, 1989)

Excerpt	Reference
"Deficiency of this enzyme leads to multiple carboxylase deficiency which is fatal in the absence of prompt diagnosis and treatment with biotin."	( Belmont, J; Nyhan, WL; Thuy, LP, 1999)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	15 (26.79)	23.3326
1990's	23 (41.07)	12.5806
2000's	12 (21.43)	18.1394
2010's	3 (5.36)	28.8240
2020's	3 (5.36)	9.53

Drug	Relationship Strength	Studies	Trials
acetylcarnitine	low	1	0
ammonium hydroxide	low	1	0
carnitine	low	3	0
methylmalonic acid	low	3	0
creatine	low	1	0
lactic acid	low	2	0
glycine	low	1	0
propionic acid	low	2	0
pteridines	low	1	0
pyruvic acid	low	1	0
urea	low	1	0
lysine	low	3	0
tyrosine	low	1	0
2-hydroxybutyric acid	low	1	0
manganese	low	1	0
molybdenum	low	1	0
s-adenosylmethionine	low	1	0
beta-hydroxyisovaleric acid	low	1	0
biocytin	low	2	0
2-hydroxyisovaleric acid	low	2	0
valerates	low	3	0
beta-methylcrotonylglycine	low	1	0
biotin	medium	43	1
vitamin k semiquinone radical	low	1	0
nystatin a1	medium	1	1
3-hydroxyisovalerylcarnitine	low	1	0
vitamin b 12	low	1	0
molybdenum cofactor	low	1	0

Protein Targets (166)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Monocarboxylate transporter 4	0	0	0	2
Solute carrier family 22 member 20	0	3	0	3
Solute carrier family 22 member 6	0	3	0	3
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	3	0	0	3
apical membrane antigen 1, AMA1	1	0	0	1
nonstructural protein 1	0	1	0	1
estrogen nuclear receptor alpha	6	0	0	6
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	2	0	2
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	2	0	2
Chain B, EUKARYOTIC TRANSLATION INITIATION FACTOR 4E	0	0	1	1
GLI family zinc finger 3	2	0	0	2
AR protein	4	0	0	4
aldehyde dehydrogenase 1 family, member A1	2	0	0	2
retinoic acid nuclear receptor alpha variant 1	5	0	0	5
retinoid X nuclear receptor alpha	2	0	0	2
peroxisome proliferator-activated receptor delta	2	0	0	2
activating transcription factor 6	1	0	0	1
thyroid hormone receptor beta isoform a	1	0	0	1
thyroid hormone receptor beta isoform 2	2	0	0	2
nuclear factor erythroid 2-related factor 2 isoform 1	3	0	0	3
lamin isoform A-delta10	2	0	0	2
Cellular tumor antigen p53	2	0	0	2
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	4
Sodium- and chloride-dependent glycine transporter 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	2	1	4
Glutamate receptor ionotropic, NMDA 2B	0	2	1	4
Glutamate receptor ionotropic, NMDA 2C	0	2	1	4
Large neutral amino acids transporter small subunit 1	0	2	0	2
Glutamate receptor ionotropic, NMDA 2D	0	2	1	4
Glutamate receptor ionotropic, NMDA 3B	0	2	1	4
Serine racemase	0	1	0	1
Olfactory receptor 51E2	0	0	2	2
Glutamate receptor ionotropic, NMDA 3A	0	2	1	4
Sodium- and chloride-dependent glycine transporter 2	0	1	0	1
acetylcholinesterase	1	0	0	1
estrogen receptor 2 (ER beta)	1	0	0	1
cytochrome P450 family 3 subfamily A polypeptide 4	1	0	0	1
estrogen-related nuclear receptor alpha	3	0	0	3
cytochrome P450 2D6	1	0	0	1
thyroid stimulating hormone receptor	1	0	0	1
v-jun sarcoma virus 17 oncogene homolog (avian)	3	0	0	3
cellular tumor antigen p53 isoform a	1	0	0	1
Integrin beta-3	1	0	0	1
Integrin alpha-IIb	1	0	0	1
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, Beta-lactamase	2	0	0	2
euchromatic histone-lysine N-methyltransferase 2	2	0	0	2
importin subunit beta-1 isoform 1	1	0	0	1
snurportin-1	1	0	0	1
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	1	0	0	1
tumor susceptibility gene 101 protein	1	0	0	1
GTP-binding nuclear protein Ran isoform 1	1	0	0	1
geminin	2	0	0	2
Guanine nucleotide-binding protein G	1	0	0	1
Serine racemase	0	1	0	1
Free fatty acid receptor 3	0	0	1	1
Free fatty acid receptor 2	0	1	1	2
Free fatty acid receptor 2	0	0	1	1
progesterone receptor	1	0	0	1
Monocarboxylate transporter 2	0	0	0	1
Monocarboxylate transporter 1	0	0	0	1
C-terminal-binding protein 2	0	1	0	1
Monocarboxylate transporter 2	0	1	0	1
Prolyl 4-hydroxylase	0	1	0	1
Solute carrier organic anion transporter family member 2A1	0	1	0	1
Alpha-ketoglutarate-dependent dioxygenase FTO	0	1	0	1
Met repressor	0	0	2	2
Protein arginine N-methyltransferase 5	0	0	1	1
Histone H3K27 methylase	0	0	0	1
Phenylethanolamine N-methyltransferase	0	0	1	2
S-adenosylmethionine decarboxylase proenzyme	0	1	0	2
Protein-L-isoaspartate(D-aspartate) O-methyltransferase	0	1	0	1
Catechol O-methyltransferase	0	0	0	1
Protein arginine N-methyltransferase 1	0	1	0	1
Methylosome protein 50	0	0	1	1
Chain A, CHORISMATE MUTASE	0	1	0	1
Chain A, TYROSYL-tRNA SYNTHETASE	0	0	1	1
Polyphenol oxidase 2	0	0	0	1
Carbonic anhydrase 12	0	0	0	1
Carbonic anhydrase 1	0	0	0	1
Carbonic anhydrase 2	0	0	0	1
Plasma kallikrein	0	0	0	1
Carbonic anhydrase 3	0	0	0	1
Carbonic anhydrase 4	0	0	0	1
Carbonic anhydrase 6	0	0	0	1
Adenosine receptor A1	0	0	0	1
Adenosine receptor A2a	0	0	0	1
Carbonic anhydrase 5A, mitochondrial	0	0	0	1
Carbonic anhydrase	0	0	0	1
Carbonic anhydrase 7	0	0	0	1
Carbonic anhydrase	0	0	0	1
SLC16A10 protein	0	0	0	1
Carbonic anhydrase 9	0	0	0	1
Carbonic anhydrase	0	0	0	1
Carbonic anhydrase-like protein, putative	0	0	0	1
Carbonic anhydrase	0	0	0	1
Carbonic anhydrase	0	0	0	1
Carbonic anhydrase	0	0	0	1
Tubulin--tyrosine ligase	0	1	0	1
Monocarboxylate transporter 10	0	0	0	1
Carbonic anhydrase 15	0	0	0	1
Taste receptor type 2 member 14	0	0	0	1
Carbonic anhydrase 14	0	0	0	1
Carbonic anhydrase 5B, mitochondrial	0	0	0	1
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	1	0	0	1
caspase 7, apoptosis-related cysteine protease	1	0	0	1
nuclear receptor subfamily 1, group I, member 3	1	0	0	1
pregnane X nuclear receptor	1	0	0	1
caspase-3	1	0	0	1
Histone H2A.x	1	0	0	1
chromobox protein homolog 1	2	0	0	2
DNA polymerase iota isoform a (long)	2	0	0	2
lethal factor (plasmid)	1	0	0	1
Rap guanine nucleotide exchange factor 3	2	0	0	2
Urease subunit alpha	0	1	0	1
Urease subunit beta	0	1	0	1
Carbonic anhydrase	0	1	0	1
Chain A, Ferritin light chain	1	0	0	1
thioredoxin reductase	1	0	0	1
USP1 protein, partial	1	0	0	1
thioredoxin glutathione reductase	1	0	0	1
peripheral myelin protein 22	1	0	0	1
histone acetyltransferase KAT2A isoform 1	1	0	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Carboxylase Deficiency, Combined

Synonyms(6)

Research Excerpts

Context

Treatment

Research

Studies (56)

Protein Targets (166)

Carboxylase Deficiency, Combined

Synonyms(6)

Research Excerpts

Context

Treatment

Research

Studies (56)

Drugs Studied (30)

Protein Targets (166)