Ornithine transcarbamylase deficiency: MedlinePlus Genetics
Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Explore symptoms ... Genetic Testing Registry: Ornithine carbamoyltransferase deficiency Genetic and Rare Diseases Information Center. *Ornithine ... Ornithine transcarbamylase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a ... medlineplus.gov/genetics/condition/ornithine-transcarbamylase-deficiency/ Ornithine transcarbamylase deficiency. ...
Orotic aciduria - Wikipedia
Wraith, J. E. (2001). "Ornithine carbamoyltransferase deficiency". Archives of Disease in Childhood. 84 (1): 84-88. doi:10.1136 ... particularly in ornithine transcarbamylase deficiency (OTC deficiency). This can be distinguished from hereditary orotic ... Orotic aciduria (AKA hereditary orotic aciduria) is a disease caused by an enzyme deficiency, resulting in a decreased ability ... Type I has a severe deficiency of both activities of UMP synthase. In Type II orotic aciduria, the ODC activity is deficient ...
EU/3/10/734 | European Medicines Agency
Ornithine carbamoyltransferase deficiency is a long-term debilitating and life-threatening disease that leads to mental ... What is ornithine carbamoyltransferase deficiency? Ornithine carbamoyltransferase deficiency is one of the inherited disorders ... Patients with ornithine carbamoyltransferase deficiency lack ornithine carbamoyltransferase, one of the liver enzymes that ... ornithine carbamoyltransferase deficiency, citrullinaemia type 1, argininosuccinic aciduria, hyperargininaemia and ornithine ...
Hyperammonemia, Type Iii: Disease Bioinformatics: Novus Biologicals
Type Iii from related diseases, pathways, genes and PTMs with the Novus Bioinformatics Tool. ... Ornithine Carbamoyltransferase Deficiency. The study of Hyperammonemia, Type Iii has been mentioned in research publications ... N-acetylglutamate Synthase Deficiency, N-acetylglutamate Synthetase Deficiency, Nags Deficiency. ... Related Diseases. Hyperammonemia, Type Iii has been studied in relation to diseases such as: *Hyperammonemia ...
DeCS - Términos Nuevos
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE. DOENÇA DA DEFICIÊNCIA DE ORNITINA CARBOMOILTRANSFERASE. ENFERMEDADES ... PICK DISEASE OF THE BRAIN. DOENÇA CEREBRAL DE PICK. ENFERMEDAD DEL CUERPO DE LEWY. LEWY BODY DISEASE. DOENÇA DOS CORPOS DE LEWY ... TROCHLEAR NERVE DISEASES. DOENÇAS DO NERVO TROCLEAR. ENFERMEDADES DEL NERVIO VAGO. VAGUS NERVE DISEASES. DOENÇAS DO NERVO VAGO ... ABDUCENS NERVE DISEASES. DOENÇAS DO NERVO ABDUCENTE. ENFERMEDADES DEL NERVIO ACCESORIO. ACCESSORY NERVE DISEASES. DOENÇAS DO ...
DeCS - Términos Nuevos
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE. DOENÇA DA DEFICIÊNCIA DE ORNITINA CARBOMOILTRANSFERASE. ENFERMEDADES ... PICK DISEASE OF THE BRAIN. DOENÇA CEREBRAL DE PICK. ENFERMEDAD DEL CUERPO DE LEWY. LEWY BODY DISEASE. DOENÇA DOS CORPOS DE LEWY ... TROCHLEAR NERVE DISEASES. DOENÇAS DO NERVO TROCLEAR. ENFERMEDADES DEL NERVIO VAGO. VAGUS NERVE DISEASES. DOENÇAS DO NERVO VAGO ... ABDUCENS NERVE DISEASES. DOENÇAS DO NERVO ABDUCENTE. ENFERMEDADES DEL NERVIO ACCESORIO. ACCESSORY NERVE DISEASES. DOENÇAS DO ...
DeCS - Términos Nuevos
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE. DOENÇA DA DEFICIÊNCIA DE ORNITINA CARBOMOILTRANSFERASE. ENFERMEDADES ... PICK DISEASE OF THE BRAIN. DOENÇA CEREBRAL DE PICK. ENFERMEDAD DEL CUERPO DE LEWY. LEWY BODY DISEASE. DOENÇA DOS CORPOS DE LEWY ... TROCHLEAR NERVE DISEASES. DOENÇAS DO NERVO TROCLEAR. ENFERMEDADES DEL NERVIO VAGO. VAGUS NERVE DISEASES. DOENÇAS DO NERVO VAGO ... ABDUCENS NERVE DISEASES. DOENÇAS DO NERVO ABDUCENTE. ENFERMEDADES DEL NERVIO ACCESORIO. ACCESSORY NERVE DISEASES. DOENÇAS DO ...
DeCS - New terms
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE ORNITINA CARBAMOILTRANSFERASA DOENÇA DA ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO TRIGEMINO DOENÇAS DO NERVO TRIGÊMEO TROCHLEAR NERVE DISEASES ENFERMEDADES DEL ... CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE CARBAMOIL-FOSFATO SINTASA I DOENÇA DA ...
DeCS - New terms
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE ORNITINA CARBAMOILTRANSFERASA DOENÇA DA ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO TRIGEMINO DOENÇAS DO NERVO TRIGÊMEO TROCHLEAR NERVE DISEASES ENFERMEDADES DEL ... CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE CARBAMOIL-FOSFATO SINTASA I DOENÇA DA ...
DeCS - Termos Novos
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE ORNITINA CARBAMOILTRANSFERASA DOENÇA DE LAFORA ... PELIZAEUS-MERZBACHER DISEASE ENFERMEDAD DE PELIZAEUS-MERZBACHER DOENÇA DOS CORPOS DE LEWY LEWY BODY DISEASE ENFERMEDAD DEL ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO VAGO VAGUS NERVE DISEASES ENFERMEDADES DEL NERVIO ... ABDUCENS NERVE DISEASES ENFERMEDADES DEL NERVIO ABDUCENTE DOENÇAS DO NERVO ACESSÓRIO ACCESSORY NERVE DISEASES ENFERMEDADES DEL ...
DeCS - Términos Nuevos
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE. DOENÇA DA DEFICIÊNCIA DE ORNITINA CARBOMOILTRANSFERASE. ENFERMEDADES ... PICK DISEASE OF THE BRAIN. DOENÇA CEREBRAL DE PICK. ENFERMEDAD DEL CUERPO DE LEWY. LEWY BODY DISEASE. DOENÇA DOS CORPOS DE LEWY ... TROCHLEAR NERVE DISEASES. DOENÇAS DO NERVO TROCLEAR. ENFERMEDADES DEL NERVIO VAGO. VAGUS NERVE DISEASES. DOENÇAS DO NERVO VAGO ... ABDUCENS NERVE DISEASES. DOENÇAS DO NERVO ABDUCENTE. ENFERMEDADES DEL NERVIO ACCESORIO. ACCESSORY NERVE DISEASES. DOENÇAS DO ...
DeCS - New terms
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE ORNITINA CARBAMOILTRANSFERASA DOENÇA DA ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO TRIGEMINO DOENÇAS DO NERVO TRIGÊMEO TROCHLEAR NERVE DISEASES ENFERMEDADES DEL ... CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE CARBAMOIL-FOSFATO SINTASA I DOENÇA DA ...
DeCS - Termos Novos
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE ORNITINA CARBAMOILTRANSFERASA DOENÇA DE LAFORA ... PELIZAEUS-MERZBACHER DISEASE ENFERMEDAD DE PELIZAEUS-MERZBACHER DOENÇA DOS CORPOS DE LEWY LEWY BODY DISEASE ENFERMEDAD DEL ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO VAGO VAGUS NERVE DISEASES ENFERMEDADES DEL NERVIO ... ABDUCENS NERVE DISEASES ENFERMEDADES DEL NERVIO ABDUCENTE DOENÇAS DO NERVO ACESSÓRIO ACCESSORY NERVE DISEASES ENFERMEDADES DEL ...
DeCS - New terms
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE ORNITINA CARBAMOILTRANSFERASA DOENÇA DA ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO TRIGEMINO DOENÇAS DO NERVO TRIGÊMEO TROCHLEAR NERVE DISEASES ENFERMEDADES DEL ... CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE CARBAMOIL-FOSFATO SINTASA I DOENÇA DA ...
DeCS - New terms
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE ORNITINA CARBAMOILTRANSFERASA DOENÇA DA ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO TRIGEMINO DOENÇAS DO NERVO TRIGÊMEO TROCHLEAR NERVE DISEASES ENFERMEDADES DEL ... CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE CARBAMOIL-FOSFATO SINTASA I DOENÇA DA ...
DeCS - Termos Novos
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE ORNITINA CARBAMOILTRANSFERASA DOENÇA DE LAFORA ... PELIZAEUS-MERZBACHER DISEASE ENFERMEDAD DE PELIZAEUS-MERZBACHER DOENÇA DOS CORPOS DE LEWY LEWY BODY DISEASE ENFERMEDAD DEL ... TROCHLEAR NERVE DISEASES ENFERMEDADES DEL NERVIO TROCLEAR DOENÇAS DO NERVO VAGO VAGUS NERVE DISEASES ENFERMEDADES DEL NERVIO ... ABDUCENS NERVE DISEASES ENFERMEDADES DEL NERVIO ABDUCENTE DOENÇAS DO NERVO ACESSÓRIO ACCESSORY NERVE DISEASES ENFERMEDADES DEL ...
"Prenatal treatment of ornithine transcarbamylase deficiency." by Yael Wilnai, Yair J Blumenfeld et al.
Search | VHL CLAP/WR-PAHO/WHO
Thomas Moran - Publications & Research Outputs - Icahn School of Medicine at Mount Sinai
Ornithine Carbamoyltransferase Deficiency Disease 100% * Ornithine 78% * Hyperammonemia 60% * Human Influenza 57% ... Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency. McGuire, P. J., ... Plasma level of interferon γ induced protein 10 is a marker of sarcoidosis disease activity. Geyer, A. I., Kraus, T., Roberts, ... DMM Disease Models and Mechanisms. 7, 2, p. 205-213 9 p.. Research output: Contribution to journal › Article › peer-review ...
MeSH Browser
Ornithine Carbamoyltransferase Deficiency Disease [C16.320.322.828] * Pelizaeus-Merzbacher Disease [C16.320.322.906] * Wiskott- ... Immune System Diseases [C20] * Immunologic Deficiency Syndromes [C20.673] * Primary Immunodeficiency Diseases [C20.673.795] * ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] * Genetic Diseases, Inborn [C16.320] * Genetic Diseases, ... Both severe and non-severe subtypes of the disease have been identified.. Terms. X-Linked Combined Immunodeficiency Diseases ...
Muscular Dystrophy, Emery-Dreifuss | Profiles RNS
Citrullinemia (medical concept explorer)
Late-onset ornithine transcarbamylase deficiency mimicking a focal opercular syndrome | Practical Neurology
Neurological outcome of patients with ornithine carbamoyltransferase deficiency. P Nicolaides et al., Archives of Disease in ... Unusual cause of general malaise: a young woman with ornithine transcarbamylase deficiency. Sarneet Singh et al., BMJ Case ... Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic ... Valproate-induced fatal acute hyperammonaemia-related encephalopathy in late-onset ornithine transcarbamylase deficiency. ...
X-Linked Combined Immunodeficiency Diseases | Profiles RNS
Ornithine Carbamoyltransferase Deficiency Disease. *Pelizaeus-Merzbacher Disease. *Wiskott-Aldrich Syndrome. *X-Linked Combined ... X-Linked Combined Immunodeficiency Diseases*X-Linked Combined Immunodeficiency Diseases. *X Linked Combined Immunodeficiency ... This graph shows the total number of publications written about "X-Linked Combined Immunodeficiency Diseases" by people in this ... Below are the most recent publications written about "X-Linked Combined Immunodeficiency Diseases" by people in Profiles. ...
DeCS 2010 - February 12, 2010 version
Ornithine Transcarbamylase Deficiency Disease use Ornithine Carbamoyltransferase Deficiency Disease Ornithine Vasopressin use ... Ornithine Transcarbamylase Deficiency use Ornithine Carbamoyltransferase Deficiency Disease ... Ornithine Carbamoyltransferase Ornithine Carbamoyltransferase Deficiency Disease Ornithine Carboxy-lyase use Ornithine ... Ornithine Aminotransferase use Ornithine-Oxo-Acid Transaminase ... use Ornithine Carbamoyltransferase Deficiency Disease OTC Drugs ...
Pelizaeus-Merzbacher Disease | Profiles RNS
Ornithine Carbamoyltransferase Deficiency Disease. *Pelizaeus-Merzbacher Disease. *Wiskott-Aldrich Syndrome. *X-Linked Combined ... Pelizaeus-Merzbacher Disease, Transitional*Pelizaeus-Merzbacher Disease, Transitional. *Pelizaeus Merzbacher Disease, ... Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]. *Hereditary Central Nervous System Demyelinating Diseases [C10.228. ... Brain Diseases, Metabolic, Inborn [C16.320.565.189]. *Hereditary Central Nervous System Demyelinating Diseases [C16.320.565.189 ...
"Vomiting"[Clinical Features] OR 12124[uid] - MedGen -...
Ornithine carbamoyltransferase deficiency. Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset ... Galactosylceramide beta-galactosidase deficiency. Krabbe disease comprises a spectrum ranging from infantile-onset disease (i.e ... UDPglucose-4-epimerase deficiency. Epimerase deficiency galactosemia (GALE deficiency galactosemia) is generally considered a ... There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by ...
herenciageneticayenfermedad: Health Conditions - Genetics Home Reference: O | Published: January 24, 2017
Ornithine Carbamoyltransferase Deficiency Disease, see ornithine transcarbamylase deficiency. *ornithine keto acid ... Ormonds disease, see retroperitoneal fibrosis. *ornithine aminotransferase deficiency, see gyrate atrophy of the choroid and ... obesity due to congenital leptin deficiency, see congenital leptin deficiency. *obesity due to leptin receptor gene deficiency ... ornithine-delta-aminotransferase deficiency, see gyrate atrophy of the choroid and retina ...
CIENCIASMEDICASNEWS: Health Conditions - Genetics Home Reference: O
Ornithine Carbamoyltransferase Deficiency Disease, see ornithine transcarbamylase deficiency. *ornithine keto acid ... Ormonds disease, see retroperitoneal fibrosis. *ornithine aminotransferase deficiency, see gyrate atrophy of the choroid and ... obesity due to congenital leptin deficiency, see congenital leptin deficiency. *obesity due to leptin receptor gene deficiency ... ornithine-delta-aminotransferase deficiency, see gyrate atrophy of the choroid and retina ...
Ornithine Transcarbamylase (OTC) Deficiency: Practice Essentials, Background, Pathophysiology
... deficiency is an X-linked genetic disorder of the urea cycle that leads to elevated levels of ammonia in the blood. One of the ... Drugs & Diseases , Pediatrics: Genetics and Metabolic Disease Ornithine Transcarbamylase (OTC) Deficiency. Updated: Jan 07, ... Late onset ornithine carbamoyl transferase deficiency in males. Arch Dis Child. 1988 Nov. 63(11):1363-7. [QxMD MEDLINE Link]. ... encoded search term (Ornithine Transcarbamylase (OTC) Deficiency) and Ornithine Transcarbamylase (OTC) Deficiency What to Read ...