PathWhiz

Pathway Description

3-Methylcrotonyl-CoA Carboxylase Deficiency Type I

Homo sapiens

Disease Pathway

3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Type I also called 3-MCC Deficiency is a rare inborn error of metabolism (IEM) and is the result of defective pair of genes. More specifically defects in genes MCCC1 and MCCC2 cause 3-MCC Deficiency. 3-MCC has a very important role in protein metabolism in the body. In particular, the said enzyme is pivotal in one of the many steps which constitute the breakdown of leucine. Mutations in the aforementioned genes leads to a reduction in the activity of 3-MCC. As would naturally be expected, this causes the body to be unable to uptake and breakdown leucine properly. Consequently, this leads to the build up of toxic byproducts which are not processed as the breakdown of leucine is left incomplete. If these toxic byproducts manifest themselves in sufficiently high levels they can be very harmful, damaging the brain and nervous system. Symptoms include recurring episodes of vomiting and diarrhea, lethargy, hypotonia, seizures, and coma.

References

3-Methylcrotonyl-CoA Carboxylase Deficiency Type I References

Baumgartner MR: Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis. 2005;28(3):301-9. doi: 10.1007/s10545-005-7054-3.

Pubmed: 15868465

Baumgartner MR, Dantas MF, Suormala T, Almashanu S, Giunta C, Friebel D, Gebhardt B, Fowler B, Hoffmann GF, Baumgartner ER, Valle D: Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. Am J Hum Genet. 2004 Nov;75(5):790-800. doi: 10.1086/425181. Epub 2004 Sep 9.

Pubmed: 15359379

Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D: The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest. 2001 Feb;107(4):495-504. doi: 10.1172/JCI11948.

Pubmed: 11181649

Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.

Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.

Pubmed: 21104317

Enter relative concentration values (without units). Elements will be highlighted in a color gradient where red = lowest concentration and green = highest concentration. For the best results, view the pathway in Black and White.

Visualize Compound Data

		(S)-3-Hydroxyisobutyric acid
		(S)-3-Hydroxyisobutyryl-CoA
		(S)-beta-Aminoisobutyric acid
		(S)-Methylmalonic acid semialdehyde
		2-Methyl-1-hydroxypropyl-ThPP
		2-Methyl-3-hydroxybutyryl-CoA
		2-Methylacetoacetyl-CoA
		2-Methylbutyryl-CoA
		2Fe-2S
		3-Hydroxy-3-methylglutaryl-CoA
		3-Hydroxyisovaleryl-CoA
		3-Methyl-1-hydroxybutyl-ThPP
		3-Methyl-2-oxovaleric acid
		3-Methylcrotonyl-CoA
		3-Methylglutaconyl-CoA
		Acetoacetic acid
		Acetoacetyl-CoA
		Acetyl-CoA
		Adenosine diphosphate
		Adenosine triphosphate
		Adenosylcobalamin
		Biotin
		Carbon dioxide
		Coenzyme A
		Dihydrolipoamide
		FAD
		Hydrogen carbonate
		Hydrogen Ion
		Hydrogen peroxide
		Isobutyryl-CoA
		Isovaleryl-CoA
		Ketoleucine
		L-Glutamic acid
		L-Isoleucine
		L-Leucine
		L-Valine
		Lipoamide
		Lipoyl-GMP
		Methacrylyl-CoA
		Methylmalonic acid
		Molybdopterin
		NAD
		NADH
		Oxoglutaric acid
		Oxygen
		Phosphate
		Propionyl-CoA
		Pyridoxal
		Pyridoxal 5'-phosphate
		R-Methylmalonyl-CoA
		S-(2-Methylbutanoyl)-dihydrolipoamide
		S-(2-Methylpropionyl)-dihydrolipoamide-E
		S-(3-Methylbutanoyl)-dihydrolipoamide-E
		S-Methylmalonyl-CoA
		Succinic acid
		Succinyl-CoA
		Thiamine pyrophosphate
		Tiglyl-CoA
		Water
		α-Ketoisovaleric acid

Visualize Protein Data

		2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
		2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
		3-hydroxyacyl-CoA dehydrogenase type-2
		3-hydroxyisobutyrate dehydrogenase, mitochondrial
		3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
		3-ketoacyl-CoA thiolase, mitochondrial
		4-aminobutyrate aminotransferase, mitochondrial
		Acetyl-CoA acetyltransferase, mitochondrial
		Aldehyde dehydrogenase, mitochondrial
		Aldehyde oxidase
		Branched-chain-amino-acid aminotransferase, cytosolic
		Dihydrolipoyl dehydrogenase, mitochondrial
		Enoyl-CoA hydratase, mitochondrial
		Hydroxymethylglutaryl-CoA lyase, mitochondrial
		Hydroxymethylglutaryl-CoA synthase, mitochondrial
		Isobutyryl-CoA dehydrogenase, mitochondrial
		Isovaleryl-CoA dehydrogenase, mitochondrial
		Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
		Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
		Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
		Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
		Methylglutaconyl-CoA hydratase, mitochondrial
		Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
		Methylmalonyl-CoA epimerase, mitochondrial
		Methylmalonyl-CoA mutase, mitochondrial
		Propionyl-CoA carboxylase alpha chain, mitochondrial
		Propionyl-CoA carboxylase beta chain, mitochondrial
		Short-chain specific acyl-CoA dehydrogenase, mitochondrial
		Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
		Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial
		Unknown

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