N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY. NAGS DEFICIENCY

··· Diseases ··· Symptoms ··· Lab Parameters ··· Authors ··· Ramedis ··· BH4 Patient

Disease	N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY. NAGS DEFICIENCY
Synonym	HYPERAMMONEMIA III; N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY
OMIM	237310 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	N-acetylglutamate synthetase in liver, mitochondrial Detailed enzyme information on www.expacy.ch
Gene locus	17q21.31
genetests.org	search search on genetest.org by MIM 237310 search search on genetest.org by N-ACETYLGLUTAMATE Testing - View a listing of laboratories that provide clinical testing for this disorder Resour
Summary	very rare autosomal recessive
Clinical symptoms	Amino acids, plasma ataxia coma diarrhea early death failure to thrive hyperammonemia hyperreflexia hypotonia lethargy, drowsiness, malaise or sleep disorder metabolic acidosis onset, child onset, newborn Organic acids, urine seizures vomiting
Abnormal Findings in blood	Ammonia Normal: 25.00-80.00 µmol/l \| Significant : 200.00-2000.00 µmol/l
Abnormal Findings in liver	N-acetylglutamate synthetase Normal: 34.00-203.00 nmol/min/g protein \| Significant : 3.00-20.00 nmol/min/g protein
Abnormal Findings in plasma	Alanine \| Significant : - increased Citrulline Normal: 10.00-45.00 µmol/l \| Significant : 5.00-15.00 µmol/l Glutamine \| Significant : - increased Ornithine Normal: 27.00-103.00 µmol/l \| Significant : - increased
Abnormal Findings in urine	Orotic acid Normal: 0.00-11.00 mmol/mol creatinine \| Significant : 0.00-5.00 mmol/mol creatinine
Treatment	carbamylglutamate low-protein diet
Literature	There are 14 publications available. Click here to open the relevant N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY. NAGS DEFICIENCY publica
Ramedis Case reports with long term followup	There are 1 patient data available. Click here to open the list of N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY. NAGS DEFICIENCY patients documented in Ramedis database