Page last updated: 2024-10-06

Biomarkers for urea cycle disorders

Proteins (12)

ProteinSynonymsTaxonomy
Glutaminase liver isoform, mitochondrialGLS; EC 3.5.1.2; L-glutaminase; L-glutamine amidohydrolaseHomo sapiens (human)
Alanine aminotransferase 1ALT1; EC 2.6.1.2; Glutamate pyruvate transaminase 1; GPT 1; Glutamic--alanine transaminase 1; Glutamic--pyruvic transaminase 1Homo sapiens (human)
Coagulation factor XEC 3.4.21.6; Stuart factor; Stuart-Prower factorHomo sapiens (human)
Coagulation factor VIIEC 3.4.21.21; Proconvertin; Serum prothrombin conversion accelerator; SPCAHomo sapiens (human)
Aspartate aminotransferase, cytoplasmiccAspAT; EC 2.6.1.1; EC 2.6.1.3; Cysteine aminotransferase, cytoplasmic; Cysteine transaminase, cytoplasmic; cCAT; Glutamate oxaloacetate transaminase 1; Transaminase AHomo sapiens (human)
Guanidinoacetate N-methyltransferaseEC 2.1.1.2Homo sapiens (human)
Arginase-1EC 3.5.3.1; Liver-type arginase; Type I arginaseHomo sapiens (human)
Ornithine transcarbamylase, mitochondrialOTCase; EC 2.1.3.3; Ornithine carbamoyltransferase, mitochondrialHomo sapiens (human)
Argininosuccinate synthaseEC 6.3.4.5; Citrulline--aspartate ligaseHomo sapiens (human)
N-acetylglutamate synthase, mitochondrialEC 2.3.1.1; Amino-acid acetyltransferaseHomo sapiens (human)
Argininosuccinate lyaseASAL; EC 4.3.2.1; ArginosuccinaseHomo sapiens (human)
Glycine amidinotransferase, mitochondrialEC 2.1.4.1; L-arginine:glycine amidinotransferase; TransamidinaseHomo sapiens (human)

Compounds (13)

CompoundDescription
ureaA compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids.
ArginineAn essential amino acid that is physiologically active in the L-form.
Ammonium
galactoseAn aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood.
Aspartate
fumaratesCompounds based on fumaric acid.
tyrosineA non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.
methionineA sulfur-containing essential L-amino acid that is important in many body functions.
threonineAn essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, and other proteins.
Carbamyl PhosphateThe monoanhydride of carbamic acid with PHOSPHORIC ACID. It is an important intermediate metabolite and is synthesized enzymatically by CARBAMYL-PHOSPHATE SYNTHASE (AMMONIA) and CARBAMOYL-PHOSPHATE SYNTHASE (GLUTAMINE-HYDROLYZING).
glutamate
polyglutamineRN given for (D)-isomer
orotic acidAn intermediate product in PYRIMIDINE synthesis which plays a role in chemical conversions between DIHYDROFOLATE and TETRAHYDROFOLATE.