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Summary
DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
SEPIAPTERIN REDUCTASE DEFICIENCY
612716
OMIM = Online Medalian Inheritance of Men
70594
2p14-p12
rare (<1:1000000)
autosomal recessive
symptoms
ataxia
behavior, abnormal or bizarre, confusion
behavior, hyperactive, restless
behavior. aggressive
cortical or cerebral atrophy
diurnal fluctuation of symptom
dysarthria
dystonia
extrapyramidal signs
gastrointestinal dysmotility
growth retardation
hypersalivation
hypertonia, spasticity
hypokinesia
hypotonia
mental retardation
microcephaly (<2 SD for age)
motor retardation
muscle weakness
oculogyric crisis
onset, infancy
Parkinsonism
progressive neurologic defect
psychomotor retardation
seizures
speech difficulties
tremor or twitching
laboratory finding
MRI, brain, abnormalities -
Biopterin increasedcerebrospinal fluid
Sepiapterin increasedcerebrospinal fluid
5-Hydroxyindolacetic acid decreasedcerebrospinal fluid
Homovanillic acid decreasedcerebrospinal fluid
Phenylalanine (Phe) loading test0.000.00 positiveplasmaall
Dihydrobiopterin0.000.00 increasedcerebrospinal fluidall
Prolactin0.000.00 increasedplasmaall
Homovanillic acid decreasedurine
5-Hydroxyindolacetic acid decreasedurine
Vanillylmandelic acid (VMA) decreasedurine
L-Phenylalanine normalplasma
Literature
Blane CEZerin JM, Bloom DABladder diverticula in childrenRadiology1903695-6971994
Santer Ret al.Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndromeNat Genet170324-3261997
Clark NE,et al.Pharmacological chaperones for human +-ยช-N-acetylgalactosaminidase.Proc Natl Acad Sci U S A1094317400-17402012
Sawaishi Yet al.Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein geneNeurology58101541-15432002
Palenchar JBColman RFCharacterization of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase deficiency: asparagine 276 plays an important structural roleBiochemistry4271831-18412003
Santer Ret al.Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literatureEur J Pediatr1570783-7971998