SMPDB_ID

SMP0000339

PW_ID

PW000072

图片

主题

Disease

描述

Hyperinsulinism-hyperammonemia syndrome (HHS; Glutamate dehydrogenase 1; GLUD1), an inherited condition, is caused by a defect in the GLUD1 gene which codes for mitochondrial glutamate dehydrogenase 1. It is a mitochondrial matrix enzyme, with a key role in the nitrogen and glutamate (Glu) metabolism and the energy homeostasis. An excessive activity of this enzyme results in high insulin and ammonia levels in blood; decrease level of glucose in blood. Symptoms and signs include shakiness, weakness, seizure, rapid pulse and confusion. Maintain normoglycemia is essencial to prevent neurologic damage. Some medications can be used to suppress insulin secretion.

代谢物

SMPDB ID	代谢物id	代谢物的名字
SMP0000339	PW_C000174	Succinic acid
SMP0000339	PW_C000972	Succinic acid semialdehyde
SMP0000339	PW_C000071	gamma-Aminobutyric acid
SMP0000339	PW_C000964	FAD
SMP0000339	PW_C000143	NADP
SMP0000339	PW_C000146	NADPH
SMP0000339	PW_C001847	Oxidized glutathione
SMP0000339	PW_C000080	Glutathione
SMP0000339	PW_C000078	Glycine
SMP0000339	PW_C000826	gamma-Glutamylcysteine
SMP0000339	PW_C000448	L-Cysteine
SMP0000339	PW_C000148	Oxalacetic acid
SMP0000339	PW_C000123	L-Aspartic acid
SMP0000339	PW_C001148	Pyridoxal 5'-phosphate
SMP0000339	PW_C000164	Pyruvic acid
SMP0000339	PW_C000134	Oxoglutaric acid
SMP0000339	PW_C000105	L-Alanine
SMP0000339	PW_C001144	NADH
SMP0000339	PW_C001003	1-Pyrroline-5-carboxylic acid
SMP0000339	PW_C000721	NAD
SMP0000339	PW_C000915	Nicotinic acid adenine dinucleotide
SMP0000339	PW_C001080	Guanosine monophosphate
SMP0000339	PW_C000032	Adenosine monophosphate
SMP0000339	PW_C001196	Xanthylic acid
SMP0000339	PW_C040711	4Fe-4S
SMP0000339	PW_C000190	Phosphoribosyl pyrophosphate
SMP0000339	PW_C000170	Pyrophosphate
SMP0000339	PW_C000882	5-Phosphoribosylamine
SMP0000339	PW_C001005	Zinc (II) ion
SMP0000339	PW_C000862	Carbamoyl phosphate
SMP0000339	PW_C001441	Phosphoric acid
SMP0000339	PW_C001916	Carbonic acid
SMP0000339	PW_C001858	Chitin
SMP0000339	PW_C000914	Adenosine diphosphate ribose
SMP0000339	PW_C001099	Coenzyme A
SMP0000339	PW_C000837	N-Acetyl-D-Glucosamine 6-Phosphate
SMP0000339	PW_C000940	Acetyl-CoA
SMP0000339	PW_C000969	Glucosamine 6-phosphate
SMP0000339	PW_C000079	Fructose 6-phosphate
SMP0000339	PW_C001420	Water
SMP0000339	PW_C000423	Magnesium
SMP0000339	PW_C000020	Biotin
SMP0000339	PW_C000500	L-Glutamine
SMP0000339	PW_C001104	Phosphate
SMP0000339	PW_C001034	Adenosine diphosphate
SMP0000339	PW_C000035	Ammonia
SMP0000339	PW_C000095	L-Glutamic acid
SMP0000339	PW_C000414	Adenosine triphosphate
SMP0000339	PW_C001316	Carbon dioxide
SMP0000339	PW_C040034	Hydrogen Ion

蛋白质

SMPDB ID	蛋白质id	蛋白质的名字
SMP0000339	P47897	Glutamine--tRNA ligase
SMP0000339	P51649	Succinate-semialdehyde dehydrogenase, mitochondrial
SMP0000339	P80404	4-aminobutyrate aminotransferase, mitochondrial
SMP0000339	Q99259	Glutamate decarboxylase 1
SMP0000339	P00390	Glutathione reductase, mitochondrial
SMP0000339	P48637	Glutathione synthetase
SMP0000339	P48507	Glutamate--cysteine ligase regulatory subunit
SMP0000339	P48506	Glutamate--cysteine ligase catalytic subunit
SMP0000339	Q5JPH6	Probable glutamate--tRNA ligase, mitochondrial
SMP0000339	P00505	Aspartate aminotransferase, mitochondrial
SMP0000339	P00367	Glutamate dehydrogenase 1, mitochondrial
SMP0000339	P24298	Alanine aminotransferase 1
SMP0000339	P30038	Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
SMP0000339	Q6IA69	Glutamine-dependent NAD(+) synthetase
SMP0000339	P49915	GMP synthase [glutamine-hydrolyzing]
SMP0000339	Q06203	Amidophosphoribosyltransferase
SMP0000339	P31327	Carbamoyl-phosphate synthase [ammonia], mitochondrial
SMP0000339	P27708	CAD protein
SMP0000339	Q9UJ70	N-acetyl-D-glucosamine kinase
SMP0000339	Q96EK6	Glucosamine 6-phosphate N-acetyltransferase
SMP0000339	Q06210	Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
SMP0000339	Q9UI32	Glutaminase liver isoform, mitochondrial
SMP0000339	A8YXX4	Glutamine synthetase