Child Neurology: Paroxysmal stiffening, upward gaze, and hypotonia: Hallmarks of sepiapterin reductase deficiency
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چکیده
منابع مشابه
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.
P. Dill, MD M. Wagner, MD A. Somerville, MD B. Thöny, PhD N. Blau, PhD P. Weber, MD Sepiapterin reductase deficiency (SRD) is a dopasensitive neurotransmitter disorder, caused by mutation of the SPR gene located on chromosome 2p14-p12.1 To date, 31 patients with 14 mutations have been diagnosed (BIODEF database, update November 2010, www.biopku.org). While classic tetrahydrobiopterin deficienci...
متن کاملTwo Greek siblings with sepiapterin reductase deficiency.
BACKGROUND Sepiapterin reductase (SR) deficiency is a rare inherited disorder of neurotransmitter metabolism; less than 25 cases have been described in the literature so far. METHODS We describe the clinical history and extensive cerebrospinal fluid (CSF) and urine examination of two Greek siblings with the diagnosis of SR deficiency. The diagnosis was confirmed by enzyme activity measurement...
متن کاملDetection of sepiapterin in CSF of patients with sepiapterin reductase deficiency.
Sepiapterin reductase (SR) deficiency was recently described in patients with a severe biogenic amine deficiency presenting without hyperphenylalaninemia and it was suggested that the tetrahydrobiopterin (BH(4)) pathway may be different in different cells and tissues. We now developed a HPLC method for the measurement of yellow fluorescing sepiapterin for the rapid diagnosis of SR deficiency. S...
متن کاملSepiapterin reductase deficiency: two Indian siblings with unusual clinical features.
clinical symptoms of all MC were in line with classical PD. For comparison of AAO data, we used published AAO of a large population-based cohort. The AAO of 197 idiopathic PD patients was 70 6 11 years, whereas the AAO of MC with one mutation in our meta-analysis was 42 6 16 years (P < 0.0001). It should be noted however, patients with young onset of PD are more likely to be included in genetic...
متن کاملChild Neurology: Molybdenum cofactor deficiency.
Molybdenum cofactor deficiency (MoCD) is a rare inherited metabolic disorder characterized by neonatal onset intractable seizures, severe psychomotor retardation, dysmorphic facies, and dislocated ocular lenses. A characteristic biochemical profile permits early diagnosis. Although more than 100 genetically characterized patients have been reported, this number is discrepant with the actual pre...
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ژورنال
عنوان ژورنال: Neurology
سال: 2012
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e3182452849