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Summary
ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC)
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY OTC DEFICIENCY
311250
OMIM = Online Medalian Inheritance of Men
664
Xp11.4
  • arginine-HCl
  • citrulline
  • hemofiltration/hemodialysis/peritonealdialysis
  • liver transplantation
  • low-protein diet
  • sodium benzoate
  • sodium phenylbutyrate
rare (1:40.000-1:80.000)
X-linked recessive
2 types:
- lethal neonatal
- less severe, late onset
symptoms
ataxia
behavior, abnormal or bizarre, confusion
cerebral edema
coma
developmental delay
encephalopathy
failure to thrive
feeding difficulties, poor feeding
headache (severe, recurrent or occipital, migraine)
hyperammonemia
hypothermia
hypotonia
irritability
lethargy, drowsiness, malaise or sleep disorder
liver failure
liver involvement or dysfunction
mental retardation
onset, childhood
onset, neonatal
previous deaths
respiratory alkalosis
seizures
spastic diplegia/quadriplegia
strokelike episodes
tachypnea, hyperpnea, dyspnea, respiratory distress
temperature instability
vomiting
laboratory finding
Orotic acid10.001300.000.0011.00mmol/mol creatinineurine
Ammonia200.002000.0025.0080.00-Ámol/lblood
Urea1.008.005.0015.00mmol/lserum
L-Glutamine700.001100.00178.00886.00-Ámol/lplasma
Glycine1000.005000.00210.00743.00mmol/mol creatinineurine
L-Lysine500.005000.0010.0069.00mmol/mol creatinineurine
Uracil30.00500.002.0022.00mmol/mol creatinineurine
Citrulline 7.0050.00very lowplasma
Ornithine 41.00129.00decreasedplasma
MRI, brain, white matter abnormalities -
5-Oxoproline0.000.00 increasedurineno data
Ornithine0.000.00 increasedurine
Uric acid0.000.00 increasedurineno data
Uridine0.000.00 normal-increasedurineno data
Arginine decreasedplasma
Asparagine increasedplasma
Homocitrulline normal-increasedurine
Literature
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Roze Eet al.Neuropsychiatric disturbances in presumed late-onset cobalamin C diseaseArch Neurol60101457-14622003
Moorthie S,et al.Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseasesJ Inherit Metab Dis20143762014
Gitzelmann RDeficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infantHelv Paediatr Acta270125-1301972
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Uchino Tet al.Three brothers with progressive hepatic dysfunction and severe hepatic steatosis due to a patent ductus venosusGastroenterology11001964-19681996
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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