Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.
نویسندگان
چکیده
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.
منابع مشابه
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.
We describe a unique presentation of autosomal recessive (AR) GTP cyclohydrolase I (GTPCH) deficiency, with severe CNS involvement but without hyperphenylalaninemia. A male infant presented with progressive spasticity, dystonia and oculogyric episodes. Blood phenylalanine levels were persistently normal: whereas an oral phenylalanine loading test revealed impaired phenylalanine clearance. CSF n...
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BACKGROUND Dopa-responsive dystonia (DRD) and tetrahydrobiopterin (BH4) defects are inherited disorders characterized by monoamine neurotransmitter deficiency with decreased activity of one of the BH4-metabolizing enzymes. The aim of the study was to determine the utility of cultured skin fibroblasts for the diagnosis of these diseases. METHODS Neopterin and biopterin production and GTP cyclo...
متن کاملDisorders of Phenylalanine and Tetrahydrobiopterin Metabolism
Hyperphenylalaninemia, a disorder of phenylalanine catabolism, is caused primarily by a deficiency of the hepatic apoenzyme phenylalanine-4-hydroxylase (PAH) or by one of the enzymes involved in its cofactor bio-synthesis (GTP cyclohydrolase I, GTPCH; and 6-pyruvoyl-tetrahydropterin synthase, PTPS) or its regeneration (dihydropteridine reductase, DHPR; and pterin carbinolamine-4a-dehydratase, P...
متن کاملMutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Tetrahydrobiopterin (BH(4)) deficiencies are a highly heterogeneous group of disorders with several hundred patients, and so far a total of 193 different mutant alleles or molecular lesions identified in the GTP cyclohydrolase I (GTPCH), 6-pyruvoyl-tetrahydropterin synthase (PTPS), sepiapterin reductase (SR), carbinolamine-4a-dehydratase (PCD), or dihydropteridine reductase (DHPR) genes. The sp...
متن کاملDopa-responsive dystonia and Tourette syndrome in a large Danish family.
BACKGROUND Guanosine triphosphate cyclohydrolase I (GTPCH) catalyzes the first step in the synthesis of tetrahydrobiopterin (BH4). Autosomal dominantly inherited defects in the GTPCH gene (GCH1) cause a form of dystonia that is responsive to treatment with levodopa (dopa-responsive dystonia [DRD]). OBJECTIVE To investigate molecular and clinical aspects of DRD in a large Danish family. METH...
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ورودعنوان ژورنال:
- Neurology
دوره 60 2 شماره
صفحات -
تاریخ انتشار 2003