Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.
case_report · Level V
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Abstract
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.
Medical subject headings
- Antiparkinson Agents
- Basal Ganglia Diseases
- GTP Cyclohydrolase
- Metabolism, Inborn Errors