Challenges in diagnosing and managing adult patients with urea cycle disorders.

Stepien, Karolina M; Geberhiwot, Tarekegn; Hendriksz, Christian J; Treacy, Eileen P

Stepien, Karolina M; Geberhiwot, Tarekegn; Hendriksz, Christian J; Treacy, Eileen P.

Affiliation

Stepien KM; Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, UK.
Geberhiwot T; Centre for Endocrinology, Diabetes and Metabolism, Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
Hendriksz CJ; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.
Treacy EP; National Centre for Inherited Metabolic Diseases, The Mater Misericordiae University Hospital, Dublin, Ireland.

J Inherit Metab Dis ; 42(6): 1136-1146, 2019 11.

Article in En | MEDLINE | ID: mdl-30932189

Subject(s)

Urea Cycle Disorders, Inborn/diagnosis; Urea Cycle Disorders, Inborn/therapy; Adult; Age Factors; Age of Onset; Diagnosis, Differential; Female; Humans; Hyperammonemia/diagnosis; Hyperammonemia/epidemiology; Hyperammonemia/etiology; Hyperammonemia/therapy; Infant, Newborn; Male; Neurocognitive Disorders/diagnosis; Neurocognitive Disorders/epidemiology; Neurocognitive Disorders/etiology; Neurocognitive Disorders/therapy; Ornithine Carbamoyltransferase Deficiency Disease/complications; Ornithine Carbamoyltransferase Deficiency Disease/diagnosis; Ornithine Carbamoyltransferase Deficiency Disease/epidemiology; Ornithine Carbamoyltransferase Deficiency Disease/therapy; Pregnancy; Puerperal Disorders/diagnosis; Puerperal Disorders/epidemiology; Puerperal Disorders/etiology; Puerperal Disorders/therapy; Treatment Outcome; Urea Cycle Disorders, Inborn/complications; Urea Cycle Disorders, Inborn/epidemiology

Key words

OTC deficiency; late-onset UCD; neurocognitive outcomes; pregnancy; urea cycle disorder

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Urea Cycle Disorders, Inborn Type of study: Diagnostic_studies / Etiology_studies / Screening_studies Limits: Adult / Female / Humans / Male / Newborn / Pregnancy Language: En Journal: J Inherit Metab Dis Year: 2019 Document type: Article Affiliation country: United kingdom Country of publication: United States

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