CAD Deficiency-Another Treatable Early Infantile Epileptic Encephalopathy.

Kamate, Mahesh; Patil, Supriya

Kamate, Mahesh; Patil, Supriya.

Affiliation

Kamate M; Division of Pediatric Neurology and Child Development Centre, KAHER's J N Medical College, Belgaum, Karnataka, India. Electronic address: drmaheshkamate@gmail.com.
Patil S; Department of Pediatrics, KAHER's J N Medical College, Belgaum, Karnataka, India.

Pediatr Neurol ; 110: 97-98, 2020 09.

Article in En | MEDLINE | ID: mdl-32654958

Subject(s)

Aspartate Carbamoyltransferase/deficiency; Brain Diseases, Metabolic, Inborn; Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)/deficiency; Dihydroorotase/deficiency; Drug Resistant Epilepsy; Anticonvulsants/administration & dosage; Brain Diseases, Metabolic, Inborn/complications; Brain Diseases, Metabolic, Inborn/diagnosis; Brain Diseases, Metabolic, Inborn/drug therapy; Brain Diseases, Metabolic, Inborn/enzymology; Consanguinity; Drug Resistant Epilepsy/diagnosis; Drug Resistant Epilepsy/drug therapy; Drug Resistant Epilepsy/enzymology; Drug Resistant Epilepsy/etiology; Humans; Infant; Phenytoin/administration & dosage; Uridine/administration & dosage

Key words

CAD deficiency; Drug-resistant epilepsy; Epileptic encephalopathies; Treatable neurometabolic disorder

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aspartate Carbamoyltransferase / Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) / Brain Diseases, Metabolic, Inborn / Dihydroorotase / Drug Resistant Epilepsy Type of study: Diagnostic_studies / Etiology_studies Limits: Humans / Infant Language: En Journal: Pediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2020 Document type: Article

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