What is TYROSINE HYDROXYLASE DEFICIENCY?

rare autosomal recessive mutation in the tyrosine hydroxylase gene

Gibt es eine deutsche Bezeichnung?

Segawa-Syndrom, autosomal-rezessives; Tyrosin-Hydroxylase-Mangel; Dopa-responsive Dystonie, autosomal-rezessive

Disease	TYROSINE HYDROXYLASE DEFICIENCY
Synonym	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE; L-DOPA RESPONSIVE DYSTONIA
OMIM	605407 OMIM = Online Mendelian Inheritance of Men
Orphanet	101150
Protein (UniProt)	tyrosine 3-monooxygenase
ExPASy	1.14.16.2
Gene locus	11p15.5
ICD	G24.1
Summary	rare autosomal recessive mutation in the tyrosine hydroxylase gene
Laboratory findings	Dopamine normal/dec (urine) Homovanillic acid/5-Hydroxyindoleacetic acid (HVA/5HIAA) decreased (cerebrospinal fluid) 3-Methoxy-4-hydroxyphenylglycol (MHPG, MOPEG) dec (cerebrospinal fluid) 5-Hydroxyindolacetic acid (5-HIAA) normal (cerebrospinal fluid) Homovanillic acid (HVA) dec (cerebrospinal fluid) Homovanillic acid (HVA) normal/dec (urine) Prolactin inc (serum) Vanillylmandelic acid (VMA) normal/dec (urine)
Symptoms	drooling dystonia feeding difficulties, poor feeding growth retardation, poor growth hypokinesia hypotonia intellectual disability/intellectual developmental disorder irritability lethargy, drowsiness, apathy oculogyric crisis ptosis (drooping eyelid) seizures sweating temperature instability tremor or twitching hypersalivation microcephaly (<2 SD for age) muscular rigidity myoclonus onset, childhood onset, infancy onset, neonatal Parkinsonism sleep disturbances speech development, delayed, abnormal