N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY; NAGS DEFICIENCY

very rare ( autosomal recessive mutation in the NAGS gene Adult patients are very rare and often unrecognized [Cavicchi C et al. 2018]

NAGS [N-Acetylglutamat-Synthetase]-Mangel

N-acetylglutamate synthase, mitochondrial

Question 1

What is  N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY; NAGS DEFICIENCY?

Accepted Answer

very rare (<1:2000000)
autosomal recessive

mutation in the NAGS gene

Adult patients are very rare and often unrecognized [Cavicchi C et al. 2018]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

NAGS [N-Acetylglutamat-Synthetase]-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 237310

Question 4

Which enzymes are involved?

Accepted Answer

N-acetylglutamate synthase, mitochondrial

Disease	N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY; NAGS DEFICIENCY
Synonym	HYPERAMMONEMIA III; N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY
OMIM	237310 OMIM = Online Mendelian Inheritance of Men
Orphanet	927
Protein (UniProt)	N-acetylglutamate synthase, mitochondrial
ExPASy	2.3.1.1
Gene locus	17q21.31
ICD	E72.2
Summary	very rare (<1:2000000) autosomal recessive mutation in the NAGS gene Adult patients are very rare and often unrecognized [Cavicchi C et al. 2018]
Laboratory findings	Ammonia inc (blood) Arginine dec (plasma) Citrulline dec (plasma) Glutamine inc (plasma) Hippuric acid normal/inc (urine) Orotic acid normal/dec (urine) Alanine inc (plasma) N-Acetylglutamate synthetase dec (liver) Ornithine inc (plasma)
Symptoms	coma encephalopathy hyperammonemia developmental delay Encephalopathic crisis, acute failure to thrive feeding difficulties, poor feeding feeding, protein aversion or intolerance temperature instability vomiting Amino acids, plasma ataxia behavior, aggressive diarrhea early death headache (severe, recurrent or occipital, migraine) hyperreflexia hypotonia lethargy, drowsiness, apathy metabolic acidosis nausea onset, adolescent onset, childhood onset, infancy onset, neonatal Organic acids, urine respiratory distress seizures tachypnea, hyperpnea, dyspnea, hyperventilation