SMPDB_ID

SMP0000243

PW_ID

PW000070

图片

主题

Disease

描述

4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency (SSADH; Gamma-hydroxybutyric acidemia) inhibits the formation of succinate from GABA. This deficiency results in urinary excretion of 4-hydroxybutyric acid. In vivo proton MR also indicates elevated GABA levels as compared with an age-matched control. Symptoms include ataxia, chorea or athetosis, motor retardation, seizures, macrocephaly and delayed or abnormal speech development.

代谢物

SMPDB ID	代谢物id	代谢物的名字
SMP0000243	PW_C040034	Hydrogen Ion
SMP0000243	PW_C000174	Succinic acid
SMP0000243	PW_C000972	Succinic acid semialdehyde
SMP0000243	PW_C000071	gamma-Aminobutyric acid
SMP0000243	PW_C000964	FAD
SMP0000243	PW_C000143	NADP
SMP0000243	PW_C000146	NADPH
SMP0000243	PW_C001847	Oxidized glutathione
SMP0000243	PW_C000080	Glutathione
SMP0000243	PW_C000078	Glycine
SMP0000243	PW_C000826	gamma-Glutamylcysteine
SMP0000243	PW_C000448	L-Cysteine
SMP0000243	PW_C000148	Oxalacetic acid
SMP0000243	PW_C000123	L-Aspartic acid
SMP0000243	PW_C001148	Pyridoxal 5'-phosphate
SMP0000243	PW_C000164	Pyruvic acid
SMP0000243	PW_C000134	Oxoglutaric acid
SMP0000243	PW_C000105	L-Alanine
SMP0000243	PW_C001144	NADH
SMP0000243	PW_C001003	1-Pyrroline-5-carboxylic acid
SMP0000243	PW_C000721	NAD
SMP0000243	PW_C000915	Nicotinic acid adenine dinucleotide
SMP0000243	PW_C001080	Guanosine monophosphate
SMP0000243	PW_C000032	Adenosine monophosphate
SMP0000243	PW_C001196	Xanthylic acid
SMP0000243	PW_C040711	4Fe-4S
SMP0000243	PW_C000190	Phosphoribosyl pyrophosphate
SMP0000243	PW_C000170	Pyrophosphate
SMP0000243	PW_C000882	5-Phosphoribosylamine
SMP0000243	PW_C001316	Carbon dioxide
SMP0000243	PW_C001005	Zinc (II) ion
SMP0000243	PW_C000862	Carbamoyl phosphate
SMP0000243	PW_C001441	Phosphoric acid
SMP0000243	PW_C001916	Carbonic acid
SMP0000243	PW_C001858	Chitin
SMP0000243	PW_C000914	Adenosine diphosphate ribose
SMP0000243	PW_C001099	Coenzyme A
SMP0000243	PW_C000837	N-Acetyl-D-Glucosamine 6-Phosphate
SMP0000243	PW_C000940	Acetyl-CoA
SMP0000243	PW_C000969	Glucosamine 6-phosphate
SMP0000243	PW_C000079	Fructose 6-phosphate
SMP0000243	PW_C001420	Water
SMP0000243	PW_C000423	Magnesium
SMP0000243	PW_C000020	Biotin
SMP0000243	PW_C000500	L-Glutamine
SMP0000243	PW_C001104	Phosphate
SMP0000243	PW_C001034	Adenosine diphosphate
SMP0000243	PW_C000035	Ammonia
SMP0000243	PW_C000095	L-Glutamic acid
SMP0000243	PW_C000414	Adenosine triphosphate

蛋白质

SMPDB ID	蛋白质id	蛋白质的名字
SMP0000243	P47897	Glutamine--tRNA ligase
SMP0000243	P51649	Succinate-semialdehyde dehydrogenase, mitochondrial
SMP0000243	P80404	4-aminobutyrate aminotransferase, mitochondrial
SMP0000243	Q99259	Glutamate decarboxylase 1
SMP0000243	P00390	Glutathione reductase, mitochondrial
SMP0000243	P48637	Glutathione synthetase
SMP0000243	P48507	Glutamate--cysteine ligase regulatory subunit
SMP0000243	P48506	Glutamate--cysteine ligase catalytic subunit
SMP0000243	Q5JPH6	Probable glutamate--tRNA ligase, mitochondrial
SMP0000243	P00505	Aspartate aminotransferase, mitochondrial
SMP0000243	P00367	Glutamate dehydrogenase 1, mitochondrial
SMP0000243	P24298	Alanine aminotransferase 1
SMP0000243	P30038	Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
SMP0000243	Q6IA69	Glutamine-dependent NAD(+) synthetase
SMP0000243	P49915	GMP synthase [glutamine-hydrolyzing]
SMP0000243	Q06203	Amidophosphoribosyltransferase
SMP0000243	P31327	Carbamoyl-phosphate synthase [ammonia], mitochondrial
SMP0000243	P27708	CAD protein
SMP0000243	Q9UJ70	N-acetyl-D-glucosamine kinase
SMP0000243	Q96EK6	Glucosamine 6-phosphate N-acetyltransferase
SMP0000243	Q06210	Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
SMP0000243	Q9UI32	Glutaminase liver isoform, mitochondrial
SMP0000243	A8YXX4	Glutamine synthetase