Ornithine transcarbamylase deficiency

Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.

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Narrow down the case reports

Total: 185 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (35.3%)	25727841	[Ornithine carbamoyltransferase deficiency. A clinical case]. Herraiz Gastesi G, Jimenez OE, Blasco Perez-Aramendia MJ, Martinez Raposo-Piedrafita MC, Cebollada Gracia AD, Lloris Moraleja A. Arch Argent Pediatr. 2015;113(2):e94-7. [ Show abstract ] [ Hide abstract ]
		Facial palsy
		OTC

		Fatal Outcome Homo sapiens Male
2 (17.5%)	29279777 (5723938)	Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again. Santos CD, Ratzlaff RA, Meder JC, Atwal PS, Joyce NE. Case Rep Crit Care. 2017;2017:8724810. [ Show abstract ] [ Hide abstract ]
		Seizure Myopathy
		OTC


2 (17.5%)	26080667	[Report of a case with late-onset ornithine transcarbamylase deficiency with gas chromatography-mass spectrometry and DNA sequencing confirmation and literatures review]. Tong W, Jin D, Sun J. Zhonghua Er Ke Za Zhi. 2015;53(5):366-9. [ Show abstract ] [ Hide abstract ]
		Encephalopathy Hernia
		OTC
		c\|SUB\|G\|386\|A;RS#:66656800 p\|SUB\|R\|129\|H;RS#:66656800
		Base Sequence Brain Diseases Child Gas Chromatography-Mass Spectrometry Homo sapiens Male Mutation Sequence Analysis, DNA Vomiting
2 (17.5%)	20004862 (3758690)	Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Oldham MS, VanMeter JW, Shattuck KF, Cederbaum SD, Gropman AL. Pediatr Neurol. 2010;42(1):49-52. [ Show abstract ] [ Hide abstract ]
		Dementia Progressive spasticity
		OTC

		Anisotropy Brain Diffusion Tensor Imaging Females Homo sapiens Hyperargininemia Male Pyramidal Tracts Young Adult
2 (17.5%)	429491	Atypical clinical course of ornithine transcarbamylase deficiency due to a new mutant (comparison with Reye's disease). Krieger I, Snodgrass PJ, Roskamp J. J Clin Endocrinol Metab. 1979;48(3):388-92. [ Show abstract ] [ Hide abstract ]
		Spasticity
		OTC

		Adult Amino Acids Females Homo sapiens Infant Liver Male Mutation Reye Syndrome
6 (4.0%)	30671162	Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review. Pizzi MA, Alejos D, Hasan TF, Atwal PS, Krishnaiengar SR, Freeman WD. Neurohospitalist. 2019;9(1):30-36. [ Show abstract ] [ Hide abstract ]
		Seizure
		OTC


6 (4.0%)	30449781	Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency. Koya Y, Shibata M, Senju M, Honma Y, Hiura M, Ishii M, Matsumoto S, Harada M. Intern Med. 2019;58(7):937-942. [ Show abstract ] [ Hide abstract ]
		Hyperammonemia
		OTC

		Amino Acids Comatose Females Homo sapiens Hyperammonemia Male Middle Aged Mutation Vomiting
6 (4.0%)	30420308	Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism. Bennett EE, Hummel K, Smith AG, Longo N. J Emerg Med. 2019;56(1):e5-e8. [ Show abstract ] [ Hide abstract ]
		Vomiting
		OTC

		Brain Diseases Child Delayed Diagnosis Delirium Homo sapiens Hyperammonemia Inborn Errors of Metabolism Male Vomiting
6 (4.0%)	30007405 (6046094)	Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature. Wang FS, Goh DLM, Ong HT. J Med Case Rep. 2018;12(1):208. [ Show abstract ] [ Hide abstract ]
		Seizure
		OTC

		Electroencephalography Epilepsies, Partial Females Homo sapiens Magnetic Resonance Imaging Sclerosis Temporal Lobe Urea Cycle Disorders, Inborn Young Adult
6 (4.0%)	29769109 (5956736)	Valproate-induced hyperammonemia - uncovering an underlying inherited metabolic disorder: a case report. Mehta S, Tayabali S, Lachmann R. J Med Case Rep. 2018;12(1):134. [ Show abstract ] [ Hide abstract ]
		Encephalopathy
		OTC

		Anticonvulsants Critical Illness Dietary Proteins Homo sapiens Hyperammonemia Male Young Adult

Phenotype(s) retrieved from Orphanet

Total: 6

HPO ID	Term	Frequency
HP:0001399	Hepatic failure	Very frequent (99-80%)
HP:0001744	Splenomegaly	Very frequent (99-80%)
HP:0001943	Hypoglycemia	Very frequent (99-80%)
HP:0001987	Hyperammonemia	Very frequent (99-80%)
HP:0002021	Pyloric stenosis	Very frequent (99-80%)
HP:0003355	Aminoaciduria	Very frequent (99-80%)

Phenotype(s) retrieved from case reports

Total: 41

HPO ID	Term	# of case reports
HP:0001987	Hyperammonemia	60
HP:0001298	Encephalopathy	21
HP:0001254	Lethargy	6
HP:0002013	Vomiting	6
HP:0012072	Aciduria	6
HP:0001250	Seizures	4
HP:0002181	Cerebral edema	4
HP:0012115	Hepatitis	4
HP:0001251	Ataxia	3
HP:0001289	Confusion	3
HP:0000737	Irritability	2
HP:0001297	Stroke	2
HP:0003572	Low plasma citrulline	2
HP:0000618	Blindness	1
HP:0000819	Diabetes mellitus	1
HP:0000822	Hypertension	1
HP:0000969	Edema	1
HP:0001259	Coma	1
HP:0001260	Dysarthria	1
HP:0001269	Hemiparesis	1
HP:0001513	Obesity	1
HP:0001541	Ascites	1
HP:0001733	Pancreatitis	1
HP:0001950	Respiratory alkalosis	1
HP:0002018	Nausea	1
HP:0002027	Abdominal pain	1
HP:0002045	Hypothermia	1
HP:0002133	Status epilepticus	1
HP:0002156	Homocystinuria	1
HP:0002300	Mutism	1
HP:0002301	Hemiplegia	1
HP:0002480	Hepatic encephalopathy	1
HP:0002835	Aspiration	1
HP:0002883	Hyperventilation	1
HP:0002912	Methylmalonic acidemia	1
HP:0003217	Hyperglutaminemia	1
HP:0007335	Recurrent encephalopathy	1
HP:0012050	Anasarca	1
HP:0031258	Delirium	1
HP:0040197	Encephalomalacia	1
HP:0100027	Recurrent pancreatitis	1

Causative gene(s) retrieved from Orphanet

Total: 1

Gene Symbol	Gene Name	Entrez Gene ID
OTC	ornithine carbamoyltransferase	5009