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Summary
ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC)
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY OTC DEFICIENCY
311250
OMIM = Online Medalian Inheritance of Men
Xp21.1
  • arginine-HCl
  • citrulline
  • hemofiltration/hemodialysis/peritonealdialysis
  • liver transplantation
  • low-protein diet
  • sodium benzoate
  • sodium phenylbutyrate
1:30000
X-linked
many spontanous mutations diagnostic difficulties in late-onset OTC, OTC deficiency has to be considered when a child has recurrent idiopathic vomiting with neurological signs despite normal ammonmia and plasma glutamine in the acute phase [Burlina AB et al. 2006]
symptoms
ataxia
behavior, abnormal or bizarre, confusion
coma
failure to thrive
feeding difficulties, poor feeding
headache (severe, recurrent or occipital, migraine)
hyperammonemia
hypothermia
hypotonia
lethargy, drowsiness, malaise or sleep disorder
liver failure
liver involvement (acute, chronic, hepatitis)
mental retardation
onset, childhood
onset, neonatal
previous deaths
seizures
spastic diplegia/quadriplegia
strokelike episodes
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
Orotic acid10.001300.000.0011.00mmol/mol creatinineurine
Ammonia200.002000.0025.0080.00-Ámol/lblood
Urea nitrogen1.008.005.0015.00mmol/lserum
Glutamine700.001100.00376.00709.00-Ámol/lplasma
Glycine1000.005000.000.00950.00mmol/mol creatinineurine
Lysine500.005000.0010.0069.00mmol/mol creatinineurine
Uracil30.00500.002.0022.00mmol/mol creatinineurine
Citrulline 10.0045.00very lowplasma
Ornithine 48.00210.00decreasedplasma
MRI, brain, white matter abnormalities -
5-Oxoproline0.000.00 increasedurineno data
Ornithine0.000.00 normal-increasedurineno data
Uric acid0.000.00 increasedurineno data
Uridine0.000.00 normal-increasedurineno data
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Cleghorn Get al.Age-related alterations in immunoreactive pancreatic lipase and cationic trypsinogen in young children with cystic fibrosisJ Pediatr1070377-3811985
Roze Eet al.Neuropsychiatric disturbances in presumed late-onset cobalamin C diseaseArch Neurol60101457-14622003
Gitzelmann RDeficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infantHelv Paediatr Acta270125-1301972
Shoffner JMWallace DCOxidative phosphorylation diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1461535-16091995
Uchino Tet al.Three brothers with progressive hepatic dysfunction and severe hepatic steatosis due to a patent ductus venosusGastroenterology11001964-19681996
Shoffner JMWallace DCOxidative phosphorylation diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1461535-16091995
Heymans HSWanders RJA, Schutgens RBHPeroxisomal disordersJ Inherit Metab Dis00421-4331995
Anderson KEet al.A gonadotropin releasing hormone analogue prevents cyclical attacks of porphyriaArch Intern Med15071469-14741990
Murray KFet al.Neonatal hemochromatosisPediatrics1080960-9642001
Shoffner JMWallace DCOxidative phosphorylation diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1461535-16091995
Steinberg SJFensom AH, Dalton NR, Toseland PA, Kennedy CR, Mowat APMeasurement of Plasma Very Long-Chain Fatty Acids as a Preliminary Screening Procedure for the Diagnosis of Peroxysomal DisordersJ Inher Metab Dis170323-3261994
Shoffner JMWallace DCOxidative phosphorylation diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1461535-16091995
Kornfeld SSly WSI-cell disease and pseudo-Hurler polydystrophy disorders of lysosomal enzyme phosphorylation and localizationThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202495-25081995
Shoffner JMWallace DCOxidative phosphorylation diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1461535-16091995
Rossiter BJFCaskey CTHypoxanthine-guanine phosphoribosyltransferase deficiency: Lesch-Nyhan syndrome and goutThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.201679-17061995
Roe CRCoates PMMitochondrial fatty acid oxidation disordersThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101501-15331995