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Summary
DOPA-RESPONSIVE DYSTONIA
SEGAWA SYNDROME, AUTOSOMAL DOMINANT DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATIONS
128230
OMIM = Online Medalian Inheritance of Men
101150
14q22.1-q22.2
rare
autosomal dominant
autosomal recessive (rare)
symptoms
diurnal fluctuation of symptom
dysphagia
dystonia
hyperreflexia
hyperthermia
hypertonia, spasticity
hypokinesia
hypotonia
mental retardation
muscular rigidity
onset, childhood
onset, infancy
Parkinsonism
scoliosis
seizures
torticollis
tremor or twitching
laboratory finding
Homovanillic acid decreasedcerebrospinal fluid
5-Hydroxyindolacetic acid normal/decreasedcerebrospinal fluid
Neopterin decreasedcerebrospinal fluid
Biopterin0.000.00 decreasedcerebrospinal fluidall
Phenylalanine (Phe) loading test0.000.00 positivebloodall
Literature
Alfadhel M,et al.Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and reviewAm J Med Genet A155102571-25772011
Miousse IR,Watkins D, Rosenblatt DSNovel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolismMol Genet Metab1024505-5072011
van Geet Cet al.Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complicationsJ Inherit Metab Dis244477-4922001
Neufeld EFM+ÔéČnzer JThe mucopolysaccharidosesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202465-24941995
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Oladipo O,et al.Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patientPediatrics12861636-16402011
Homolova K,et al.The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuriaHum Mutat314437-4442010
Schiff M,et al.Isolated remethylation disorders: do our treatments benefit patients?J Inherit Metab Dis341137-1452011