Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency

Autor:	L. Angelini, M. Sesta, Federica Invernizzi, Nardo Nardocci, Nenad Blau, M. Pannacci, Giovanna Zorzi, B. Garavaglia, E. Fernandez Alvarez
Rok vydání:	2003
Předmět:	Levodopa medicine.medical_specialty Adolescent GTP cyclohydrolase I Dopamine Agents Genes Recessive Neonatal onset Infant Newborn Diseases Central nervous system disease Antiparkinson Agents Basal Ganglia Diseases Dopamine Internal medicine Tremor medicine Humans GTP Cyclohydrolase Basal ganglia disease Dystonia biology Reflex Abnormal business.industry Homozygote Remission Induction Infant Newborn Carbidopa medicine.disease Muscle Rigidity Endocrinology Treatment Outcome Mutation biology.protein Female Neurology (clinical) business Metabolism Inborn Errors medicine.drug Follow-Up Studies
Zdroj:	Scopus-Elsevier
ISSN:	1526-632X
Popis:	The authors report two twin sisters, age 15 years, with recessive GTP cyclohydrolase deficiency, who presented with neonatal onset of rigidity, tremor, and dystonia but with no other symptoms suggestive of a diffuse CNS involvement. The plasma phenylalanine levels were normal. Treatment with L-dopa/carbidopa, started at age 1 year, was associated with sustained recovery from all neurologic signs. The patients were homozygous for a new recessive mutation in the GHI gene.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63aa351deb2e93a680cafe0a142062b5 https://pubmed.ncbi.nlm.nih.gov/12552057 Zobrazit plný text záznamu