SMPDB_ID

SMP0000185

PW_ID

PW000107

图片

主题

Disease

描述

Glutaric Aciduria Type 1 is a rare autosomal recessive disease caused by a mutation in the GCDH which codes for glutaryl-CoA dehydrogenase. A deficiency in this enzyme results in accumulation of 3-hydroxybutyric acid, 3-hydroxyglutaric acid, glutaconic acid, glutaric acid, and ketone bodies in urine. Symptoms include encephalopathy, grimacing, dystonia, metabolic acidosis, and hygroma. Treatment includes a low-protein diet, L-carnitine, riboflavin, and anticonvulsants.

代谢物

SMPDB ID	代谢物id	代谢物的名字
SMP0000185	PW_C001316	Carbon dioxide
SMP0000185	PW_C001032	Glutaryl-CoA
SMP0000185	PW_C001142	Acetoacetyl-CoA
SMP0000185	PW_C000904	3-Hydroxybutyryl-CoA
SMP0000185	PW_C001345	Crotonoyl-CoA
SMP0000185	PW_C000856	Butyryl-CoA
SMP0000185	PW_C002007	3-Oxohexanoyl-CoA
SMP0000185	PW_C002006	(S)-Hydroxyhexanoyl-CoA
SMP0000185	PW_C000964	FAD
SMP0000185	PW_C002008	trans-2-Hexenoyl-CoA
SMP0000185	PW_C001719	Hexanoyl-CoA
SMP0000185	PW_C002005	3-Oxooctanoyl-CoA
SMP0000185	PW_C002004	(S)-Hydroxyoctanoyl-CoA
SMP0000185	PW_C002013	(2E)-Octenoyl-CoA
SMP0000185	PW_C000845	Octanoyl-CoA
SMP0000185	PW_C002003	3-Oxodecanoyl-CoA
SMP0000185	PW_C002002	(S)-Hydroxydecanoyl-CoA
SMP0000185	PW_C002012	(2E)-Decenoyl-CoA
SMP0000185	PW_C002742	Decanoyl-CoA
SMP0000185	PW_C002001	3-Oxododecanoyl-CoA
SMP0000185	PW_C002000	(S)-3-Hydroxydodecanoyl-CoA
SMP0000185	PW_C001928	Lauroyl-CoA
SMP0000185	PW_C001999	3-Oxotetradecanoyl-CoA
SMP0000185	PW_C001998	(S)-3-Hydroxytetradecanoyl-CoA
SMP0000185	PW_C002010	(2E)-Tetradecenoyl-CoA
SMP0000185	PW_C000423	Magnesium
SMP0000185	PW_C000170	Pyrophosphate
SMP0000185	PW_C000032	Adenosine monophosphate
SMP0000185	PW_C000414	Adenosine triphosphate
SMP0000185	PW_C000940	Acetyl-CoA
SMP0000185	PW_C001171	Tetradecanoyl-CoA
SMP0000185	PW_C040034	Hydrogen Ion
SMP0000185	PW_C001144	NADH
SMP0000185	PW_C002740	3-Oxohexadecanoyl-CoA
SMP0000185	PW_C000721	NAD
SMP0000185	PW_C001420	Water
SMP0000185	PW_C001996	(S)-3-Hydroxyhexadecanoyl-CoA
SMP0000185	PW_C002009	(2E)-Hexadecenoyl-CoA
SMP0000185	PW_C001099	Coenzyme A
SMP0000185	PW_C000044	L-Carnitine
SMP0000185	PW_C001031	Palmityl-CoA
SMP0000185	PW_C000147	L-Palmitoylcarnitine
SMP0000185	PW_C000145	Palmitic acid

蛋白质

SMPDB ID	蛋白质id	蛋白质的名字
SMP0000185	P49748	Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
SMP0000185	Q92947	Glutaryl-CoA dehydrogenase, mitochondrial
SMP0000185	P24752	Acetyl-CoA acetyltransferase, mitochondrial
SMP0000185	P16219	Short-chain specific acyl-CoA dehydrogenase, mitochondrial
SMP0000185	P45954	Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
SMP0000185	P11310	Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
SMP0000185	P28330	Long-chain specific acyl-CoA dehydrogenase, mitochondrial
SMP0000185	P33121	Long-chain-fatty-acid--CoA ligase 1
SMP0000185	P50416	Carnitine O-palmitoyltransferase 1, liver isoform
SMP0000185	P42765	3-ketoacyl-CoA thiolase, mitochondrial
SMP0000185	P55084	Trifunctional enzyme subunit beta, mitochondrial
SMP0000185	P40939	Trifunctional enzyme subunit alpha, mitochondrial
SMP0000185	P30084	Enoyl-CoA hydratase, mitochondrial
SMP0000185	P23786	Carnitine O-palmitoyltransferase 2, mitochondrial