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Summary
TYROSINE HYDROXYLASE DEFICIENCY
TH L-DOPA RESPONSIVE DYSTONIA
605407
OMIM = Online Medalian Inheritance of Men
101150
11p15.5
  • L-Dopa
rare
autosomal recessive
mutation in the tyrosine hydroxylase gene
symptoms
dystonia
feeding difficulties, poor feeding
hypersalivation
hypotonia
irritability
microcephaly
muscular rigidity
oculogyric crisis
onset, childhood
onset, infancy
onset, neonatal
Parkinsonism
ptosis (drooping eyelid)
seizures
tremor or twitching
laboratory finding
Homovanillic acid 100.00900.00decreasedcerebrospinal fluid
Dopamine0.000.00 normal/decreasedurineno data
Homovanillic acid0.000.00 normal/decreasedurineno data
Vanillylmandelic acid (VMA)0.000.00 normal/decreasedurineno data
Literature
Guffon Net al.2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new caseJ Inherit Metab Dis160821-8301993
Saraiva JMBaraitser MJoubert syndrome: a reviewAm J Med Genet430726-7311992
Saito Yet al.Hyperzincemia with systemic inflammation: a heritable disorder of calprotectin metabolism with rheumatic manifestations?J Pediatr1402267-2692002
Jaeken Jet al.Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase IIArch Dis Child710123-1271994
Hirashima Yet al.Lactose intolerance associated with cataractsEur J Pediatr130041-451979
Brown GKet al.Malonyl coenzyme A decarboxylase deficiencyJ Inherit Metab Dis7021-261984