Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.
This study included 12 Chinese patients with a wide spectrum of phenotypes of tyrosine hydroxylase deficiency. Seven females and 5 males, aged 2.2 to 41 years, had phenotypes ranging from severe type with onset at infancy to mild type with onset after 3 years of age. Patients with the severe type had encephalopathy with poor treatment response or infantile parkinsonism with motor delay. Patients with the less common mild type had dopa-responsive dystonia or a newly recognized predominant symptom of myopathy. Female siblings had more severe phenotypes. The phenotype and treatment outcomes were strongly related to a homovanillic acid level and homovanillic acid/5-hydroxyindolacetic acid ratio of less than 1 in the cerebrospinal fluid. Hyperprolactinemia was found in 50% of the severe cases. Levodopa was the mainstay of treatment, and early addition of selegiline resulted in a remarkable response in some patients. Treatment response for mild-type patients is universally good even with a treatment delay of 10 years after onset of neurological symptoms.
Yeung
Wai-Lan
WL
Department of Paediatrics, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR, China. yw1221@ha.org.hk
Wong
Virginia C N
VC
Chan
Kwok-Yin
KY
Hui
Joannie
J
Fung
Cheuk-Wing
CW
Yau
Eric
E
Ko
Chun-Hung
CH
Lam
Ching-Wan
CW
Mak
Chloe M
CM
Siu
Simon
S
Low
Louis
L
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003677:Deficiency Diseases / Q000188:drug therapy*; D015259:Dopamine Agents / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D020734:Parkinsonian Disorders / Q000188:drug therapy* / Q000235:genetics; D010641:Phenotype; D011388:Prolactin / Q000097:blood; D012642:Selegiline / Q000627:therapeutic use*; D012720:Severity of Illness Index; D016896:Treatment Outcome; D014446:Tyrosine 3-Monooxygenase / Q000172:deficiency*
D015259:Dopamine Agents; D012642:Selegiline; D007980:Levodopa; D011388:Prolactin; D014446:Tyrosine 3-Monooxygenase