Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head trauma

The first case of Glutaric aciduria Type 1(GA1) in an African child was reported in 2001. GA1 has a prevalence of 1:5000 in black South Africans. Although early diagnosis is essential for a favourable outcome, newborn screening is not routine in South Africa where an estimated 320,000 children have...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Metabolic brain disease 2018-04, Vol.33 (2), p.537-544
Hauptverfasser:	Thomas, Angeline, Dobbels, Els F. M., Springer, Priscilla E., Ackermann, Christelle, Cotton, Mark F., Laughton, Barbara
Format:	Artikel
Sprache:	eng
Schlagworte:	Aciduria Amino Acid Metabolism, Inborn Errors - blood Antiretroviral agents Antiretroviral drugs Antiretroviral therapy Atrophy Atrophy - pathology Biochemistry Biomedical and Life Sciences Biomedicine Brain - pathology Brain - virology Brain Diseases - drug therapy Brain Diseases, Metabolic - blood Carnitine Carnitine - therapeutic use Children Clinical trials Complications Craniocerebral Trauma - drug therapy Craniocerebral Trauma - pathology Delay Diagnosis Diet Encephalopathy Genetic screening Globus pallidus Glutaryl-CoA Dehydrogenase - blood Glutaryl-CoA Dehydrogenase - deficiency Head injuries HIV HIV Infections - drug therapy Human immunodeficiency virus Humans Infant Infections Low protein diet Macrocephaly Male Medical imaging Medical screening Metabolic Diseases Neuroimaging Neurology Neurosciences Nutrient deficiency Oncology Original Article Seizures Temporal lobe Therapy Trauma Treatment Outcome Tuberculosis Urine
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!