Disease #01849 (NAGSD (deficiency, N-acetylglutamate synthase (NAGSD)), OMIM:237310)

Official abbreviation NAGSD
Name deficiency, N-acetylglutamate synthase (NAGSD)
OMIM ID 237310
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 52
Phenotype entries for this disease 51
Associated with 1 gene NAGS
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

52 entries on 1 page. Showing entries 1 - 52.
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00058532 Fam1a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - Switzerland - - - - - NAGSD vomiting, poor feeding, episodic confusion as neonate NAGS NAGS 2 1 Johannes Häberle
00058577 pat3 PubMed: Caldovic 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - 33y - - - NAGSD transient coma at y5 NAGS NAGS 2 1 Johannes Häberle
00058578 Fam1 PubMed: Schmidt 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France - - - - - NAGSD hypotonia at 2.5m, later hepatomegaly, failure to thrive, hyperammonemia NAGS NAGS 1 1 Johannes Häberle
00058579 Fam1 PubMed: Schmidt 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France - - - - - NAGSD hypotonia, developmental delay NAGS NAGS 1 1 Johannes Häberle
00058580 - PubMed: Caldovic 2007 - - - United States - - - - - NAGSD heterozygous mutation reported in a control sample. No further information NAGS NAGS 1 1 Johannes Häberle
00058581 Fam5a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - - - - NAGSD neonatal hyperammonemia NAGS NAGS 1 1 Johannes Häberle
00058582 Fam6a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - - - - NAGSD vomitting, failure to thrive, hepatomegaly, recurrent asymptomatic hyperammonemia, normal at y5 with benzoate, citrulline and protein restriction NAGS NAGS 1 1 Johannes Häberle
00058583 - PubMed: Häberle 2003, PubMed: Plecko 1998 - - - - - - - - - NAGSD vomitting, hypotonia, somnolence at 24y normal cognitive function NCG-treated NAGS NAGS 1 1 Johannes Häberle
00058584 Fam8a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 2-generation family, 4 affected, unaffected heterozygous carrier parents - - - - - - - - NAGSD late-onset and mild course Normal outcome without NCG NAGS NAGS 1 4 Johannes Häberle
00058585 - PubMed: Caldovic 2007 - - - United States - - - - - NAGSD onset at y27, during pregnancy, with seizures and coma NAGS NAGS 2 1 Johannes Häberle
00058586 - PubMed: Caldovic 2007 - - - United States - - - - - NAGSD late-onset with migraine, nausea, vomitting, lethargy, ataxia and coma normal at 57y NAGS NAGS 2 1 Johannes Häberle
00058587 Fam11a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - - - - NAGSD severe hyperammonemia stable at 6m with NCG treatment, death after stopping NCG elder brother died at 2y (no material or diagnosis) NAGS NAGS 2 1 Johannes Häberle
00058588 Fam12a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - - - - NAGSD UTI, somnolence, decreased conscience, peak ammonia 350 umol/l normal outcome NAGS NAGS 1 1 Johannes Häberle
00058590 - - - F - Belarus - - - - - NAGSD Hyperammonemia, NH3=203 umol/l, presenting at age 10y; no mental retardation - - - 1 Nicholas Ah Mew
00058593 - PubMed: Haberle 2003, PubMed: Caldovic 2007, PubMed: Plecko 1998 - - - (Germany) - - - - - NAGSD atypically late onset of hyperammonemia - - - 1 Johan den Dunnen
00058596 - PubMed: Haberle 2003 - - - (Germany) - - - - - NAGSD neonatally fatal hyperammonemia - - - 1 Johan den Dunnen
00058597 - PubMed: Caldovich 2003 - - - Faroe Islands - - - - - NAGSD died in neonatal period with hyperammonemia - - - 1 Johan den Dunnen
00058598 - PubMed: Haberle 2003 - - - Turkey - - - - - NAGSD died from hyperammonemia - - - 1 Johan den Dunnen
00058599 - PubMed: Caldovich 2003 two sisters F - United States Hispanic - - - - NAGSD acute neonatal hyperammonemia - - - 2 Johan den Dunnen
00058603 - PubMed: Haberle 2003, PubMed: Caldovic 2007 - - - (Germany) - - - - - NAGSD died from neonatal hyperammonemia - - - 1 Johan den Dunnen
00058604 - PubMed: Haberle 2003, PubMed: Caldovic 2007 - - - (Germany) - - - - - NAGSD died neonatal hyperammonemia - - - 1 Johan den Dunnen
00058605 - PubMed: Haberle 2003, PubMed: Caldovic 2007 - - - (Germany) - - - - - NAGSD died from neonatal hyperammonemia - - - 1 Johan den Dunnen
00060216 Fam2 PubMed: Schmidt 2005 2-generation family, 2 affected, unaffected heterozygous carrier parents ? - Algeria - - - - - NAGSD poor feeding, seizures, lethargy younger sibling: NCG-treated before symptoms developed NAGS NAGS 1 2 Johannes Häberle
00060217 Fam14a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - ? - - - 00y00m20d - - - NAGSD vomiting, lethargy, no NCG NAGS NAGS 1 1 Johannes Häberle
00060218 - PubMed: Nordenstrom 2007 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents ? - Sweden - - - - - NAGSD poor feeding, somnolence, seizures, normal psychomotor development at 2.5y younger sibling: NCG-treated before symptoms developed NAGS NAGS 1 2 Johannes Häberle
00060219 Fam19a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - ? - - - 00y00m05d - - - NAGSD neonatal onset died at d5 with hyperammonemia NAGS NAGS 1 1 Johannes Häberle
00060220 - PubMed: Caldovic 2005 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States - - - - - NAGSD vomiting, irritability, lethargy, many hyperammonemic episodes, normal cognitive development Sibling: onset at 9y, lethargy, anorexia, vomiting, seizures NAGS NAGS 2 2 Johannes Häberle
00060221 Fam27a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - ? - - - - - - - NAGSD Reye-like syndrome at 16y with hyperammonemia normal outcome NAGS NAGS 1 1 Johannes Häberle
00060222 - PubMed: Schmidt 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents ? - Turkey - - - - - NAGSD hypotonia, poor feeding, lethargy NAGS NAGS 1 1 Johannes Häberle
00060223 Fam5 PubMed: Schmidt 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents ? - Turkey - - - - - NAGSD convulsions and microcephaly at 4y NAGS NAGS 1 1 Johannes Häberle
00060224 Fam2 PubMed: Häberle and Koch, 2004 - ? - Turkey - 00y00m01d - - - NAGSD neonatal death with hyperammonemic coma NAGS NAGS 1 1 Johannes Häberle
00060225 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - ? - - - 00y00m03d - - - NAGSD hyperammonemic coma NAGS NAGS 1 1 Johannes Häberle
00060226 - PubMed: Häberle 2003, PubMed: Häberle 2003 - ? - - - 00y00m06d - - - NAGSD hyperammonemic encephalopathy NAGS NAGS 2 1 Johannes Häberle
00060227 Fam35b PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 2-generation family, 2 affected ? - - - 00y00m07d - - - NAGSD hyperammonemic coma, death on 7d sibling: neonatal onset, hyperammonemic coma, death on 19d NAGS NAGS 1 2 Johannes Häberle
00060228 - PubMed: Elpeleg 2002 2-generation family, affected twin brotehs, unaffected heterozygous carrier parents M yes Iran Jewish - - - - NAGSD treated but unstable until NCG started at 36m, suffers neurological sequelae Sibling: prospective treatment from birth, but NCG only started at 3m, suffers neurological sequelae NAGS NAGS 1 2 Johannes Häberle
00060229 Fam38b PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 no clinical information ? - - - - - - - NAGSD - NAGS NAGS 1 1 Johannes Häberle
00248284 Fam1 PubMed: Häberle and Koch 2004 prenatal diagnosis, fetus affected - - Faroe Islands - - - - - NAGSD see paper; … NAGS NAGS 1 1 Johan den Dunnen
00248296 Fam39b PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - - - - NAGSD 2d-hyperammonemia requiring dialysis; alive under treatment including NCG NAGS NAGS 1 1 Johan den Dunnen
00248297 Fam40b PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 2-generation family, 2 affected - - - - - - - - NAGSD Index: 2d-vomiting, feeding problems, hyperammonemia was diagnosed and treated with hemodiafiltration; 1y-normal development under treatment with NCG Elder sibling: onset first few days, death in early neonatal period, no ammoniameasurements done NAGS NAGS 1 2 Johan den Dunnen
00248298 Fam41b PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - - - - NAGSD neonatal onset with hyperammonemia (max. 368 μmol/L), metabolically stable with NCG NAGS NAGS 1 1 Johan den Dunnen
00248299 - PubMed: Caldovich 2003, OMIM:var0002 2-generation family, 2 affected - - - - - - - - NAGSD Index: 4d-onset; 22d-death hyperammonemic encephalopathy: Sibling: 2d-onset, treated but unstable until NCG started at 3m; 13y-normal neurological status NAGS NAGS 1 2 Johannes Häberle
00248300 - PubMed: Haberle 2003, OMIM:var0002 - - - - - - - - - NAGSD 1d-onset; 4d-death NAGS NAGS 1 1 Johannes Häberle
00248301 - PubMed: Caldovich 2003, OMIM:var0001 2-generation family, 2 affected - - - - - - - - NAGSD Index: 2d-onset; 8m-liver transplantation, no information on neurological status: Sibling: 2d-onset NAGS NAGS 1 2 Johannes Häberle
00248302 - PubMed: Haberle 2003, PubMed: Caldovic 2007, OMIM:var0006 - - - - - - - - - NAGSD 2d-onset, hyperammonemic encephalopathy; 4d-death with cerebral edema NAGS NAGS 1 1 Johannes Häberle
00248303 Fam17a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - - - - NAGSD neonatal onset NAGS NAGS 1 1 Johannes Häberle
00248304 - PubMed: Haberle 2003, PubMed: Caldovic 2007, OMIM:var0008 - - - - - - - - - NAGSD 6d-onset, poor feeding, lethargy; 3m-death NAGS NAGS 1 1 Johannes Häberle
00248305 Fam20a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 2-generation family, 3 affected - - - - - - - - NAGSD Index: 3d-onset hyperammonemic coma; 6m-death: Sibling and relative: genetic demonstration and NCG treated before symptoms developed NAGS NAGS 1 3 Johannes Häberle
00248306 Fam21a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - - - - NAGSD 2d-onset, poor feeding, seizures; psychomotor delay and spasticity, NCG treatment NAGS NAGS 1 1 Johannes Häberle
00248307 Fam22a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - - - - NAGSD neonatal onset with hyperammonemia NAGS NAGS 1 1 Johannes Häberle
00248308 Fam23a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - - - - NAGSD 3d-onset, standard treatment for hyperammonemia without NCG; 22m-alive while treated NAGS NAGS 1 1 Johannes Häberle
00248309 Fam24a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - - - - NAGSD neonatal onset with hyperammonemia NAGS NAGS 1 1 Johannes Häberle
00248310 - PubMed: Van Leynseele 2014 - - - Belgium - - - - - NAGSD 1m-hyperammonemia; 22m-diagnosed while under treatment with diet and NCG NAGS NAGS 1 1 Johannes Häberle
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