3-Methylcrotonyl-CoA Carboxylase Deficiency Type I
SMPDB_ID
SMP0000237
PW_ID
PW000065
图片
主题
Disease
描述
3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Type I (3-MCC Deficiency; MCCD Type I; Methylcrotonylglycinuria Type I; 3-Methylcrotonylglycinuria I) is caused by a defect in the MCCC1 and MCCC2 genes. 3-methylcrotonyl-coenzyme A carboxylase plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for the fourth step in processing leucine. If a mutation in the MCCC1 or MCCC2 gene reduces or eliminates the activity of 3-methylcrotonyl-CoA carboxylase, the body is unable to process leucine properly. As a result, toxic byproducts of leucine processing build up to harmful levels, damaging the brain and nervous system. Symptoms include recurring episodes of vomiting and diarrhea, lethargy, hypotonia, seizures, and coma.
代谢物
SMPDB ID代谢物id代谢物的名字
SMP0000237 PW_C000721 NAD
SMP0000237 PW_C000782 Dihydrolipoamide
SMP0000237 PW_C000870 Isovaleryl-CoA
SMP0000237 PW_C001060 Thiamine pyrophosphate
SMP0000237 PW_C002978 S-(3-Methylbutanoyl)-dihydrolipoamide-E
SMP0000237 PW_C000769 Lipoamide
SMP0000237 PW_C002976 3-Methyl-1-hydroxybutyl-ThPP
SMP0000237 PW_C000547 Ketoleucine
SMP0000237 PW_C000540 L-Leucine
SMP0000237 PW_C001063 3-Hydroxy-3-methylglutaryl-CoA
SMP0000237 PW_C000832 3-Methylglutaconyl-CoA
SMP0000237 PW_C001150 3-Methylcrotonyl-CoA
SMP0000237 PW_C000704 L-Valine
SMP0000237 PW_C001142 Acetoacetyl-CoA
SMP0000237 PW_C000042 Acetoacetic acid
SMP0000237 PW_C000940 Acetyl-CoA
SMP0000237 PW_C000964 FAD
SMP0000237 PW_C040034 Hydrogen Ion
SMP0000237 PW_C001144 NADH
SMP0000237 PW_C000174 Succinic acid
SMP0000237 PW_C040558 2Fe-2S
SMP0000237 PW_C001491 Molybdopterin
SMP0000237 PW_C001783 Hydrogen peroxide
SMP0000237 PW_C001065 Oxygen
SMP0000237 PW_C001401 Adenosylcobalamin
SMP0000237 PW_C000808 Succinyl-CoA
SMP0000237 PW_C001316 Carbon dioxide
SMP0000237 PW_C001188 Pyridoxal
SMP0000237 PW_C000095 L-Glutamic acid
SMP0000237 PW_C000134 Oxoglutaric acid
SMP0000237 PW_C000897 2-Methylacetoacetyl-CoA
SMP0000237 PW_C001047 2-Methyl-3-hydroxybutyryl-CoA
SMP0000237 PW_C001378 Tiglyl-CoA
SMP0000237 PW_C000820 2-Methylbutyryl-CoA
SMP0000237 PW_C002980 S-(2-Methylbutanoyl)-dihydrolipoamide
SMP0000237 PW_C000373 3-Methyl-2-oxovaleric acid
SMP0000237 PW_C000112 L-Isoleucine
SMP0000237 PW_C000988 Propionyl-CoA
SMP0000237 PW_C000130 Methylmalonic acid
SMP0000237 PW_C001500 (S)-Methylmalonic acid semialdehyde
SMP0000237 PW_C000016 (S)-3-Hydroxyisobutyric acid
SMP0000237 PW_C001523 R-Methylmalonyl-CoA
SMP0000237 PW_C001104 Phosphate
SMP0000237 PW_C001560 S-Methylmalonyl-CoA
SMP0000237 PW_C001455 (S)-b-aminoisobutyric acid
SMP0000237 PW_C000020 Biotin
SMP0000237 PW_C001034 Adenosine diphosphate
SMP0000237 PW_C000463 Hydrogen carbonate
SMP0000237 PW_C000414 Adenosine triphosphate
SMP0000237 PW_C001420 Water
SMP0000237 PW_C002981 3-Hydroxyisovaleryl-CoA
SMP0000237 PW_C008511 Lipoyl-GMP
SMP0000237 PW_C001099 Coenzyme A
SMP0000237 PW_C000829 (S)-3-Hydroxyisobutyryl-CoA
SMP0000237 PW_C000800 Methacrylyl-CoA
SMP0000237 PW_C000960 Isobutyryl-CoA
SMP0000237 PW_C001148 Pyridoxal 5'-phosphate
SMP0000237 PW_C002979 S-(2-Methylpropionyl)-dihydrolipoamide-E
SMP0000237 PW_C002977 2-Methyl-1-hydroxypropyl-ThPP
SMP0000237 PW_C000012 alpha-Ketoisovaleric acid
蛋白质
SMPDB ID蛋白质id蛋白质的名字
SMP0000237 P55809 Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial
SMP0000237 P24752 Acetyl-CoA acetyltransferase, mitochondrial
SMP0000237 P54868 Hydroxymethylglutaryl-CoA synthase, mitochondrial
SMP0000237 Q13825 Methylglutaconyl-CoA hydratase, mitochondrial
SMP0000237 P05091 Aldehyde dehydrogenase, mitochondrial
SMP0000237 Q06278 Aldehyde oxidase
SMP0000237 P22033 Methylmalonyl-CoA mutase, mitochondrial
SMP0000237 Q96PE7 Methylmalonyl-CoA epimerase, mitochondrial
SMP0000237 P05166 Propionyl-CoA carboxylase beta chain, mitochondrial
SMP0000237 P05165 Propionyl-CoA carboxylase alpha chain, mitochondrial
SMP0000237 Q02252 Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
SMP0000237 P42765 3-ketoacyl-CoA thiolase, mitochondrial
SMP0000237 Q99714 3-hydroxyacyl-CoA dehydrogenase type-2
SMP0000237 P80404 4-aminobutyrate aminotransferase, mitochondrial
SMP0000237 P31937 3-hydroxyisobutyrate dehydrogenase, mitochondrial
SMP0000237 Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
SMP0000237 Q9UKU7 Isobutyryl-CoA dehydrogenase, mitochondrial
SMP0000237 P45954 Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
SMP0000237 P16219 Short-chain specific acyl-CoA dehydrogenase, mitochondrial
SMP0000237 Q9HCC0 Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
SMP0000237 Q96RQ3 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
SMP0000237 P30084 Enoyl-CoA hydratase, mitochondrial
SMP0000237 P11310 Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
SMP0000237 P26440 Isovaleryl-CoA dehydrogenase, mitochondrial
SMP0000237 P11182 Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
SMP0000237 P54687 Branched-chain-amino-acid aminotransferase, cytosolic
SMP0000237 P35914 Hydroxymethylglutaryl-CoA lyase, mitochondrial
SMP0000237 P09622 Dihydrolipoyl dehydrogenase, mitochondrial
SMP0000237 P12694 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
SMP0000237 P21953 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

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