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[Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia].
- Source :
-
Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2014 Aug; Vol. 52 (8), pp. 616-9. - Publication Year :
- 2014
-
Abstract
- Objective: To analyze the clinical characteristics of the patient with tyrosine hydroxylase deficiency, and investigate it's molecular mechanism.<br />Method: The clinical characteristics of a patient with tyrosine hydroxylase deficiency were summarized and analyzed, his and his family's peripheral blood specimens were collected after informed consent was signed. All exons and the intron-exon boundaries of guanosine triphosphate hydroxylase I gene, tyrosine hydroxylase gene and sepiapterin reductase gene were examined by DNA-PCR, bi-directional sequencing.<br />Result: The patient was a 3-year-old boy, presented with unexplained dystonia for 3 years, without significant impairment of intelligence. Physical examination showed limb muscle strength grade V, rigidity of extremities, hypertonicity, brisk deep tendon reflexes in limbs, without obvious abnormalities in auxiliary examination, such as brain MRI, hepatic biochemical panel, creatine kinase, and ceruloplasmin. He dramatically responded to small doses of levodopa in the follow-up for half a year. A homozygous missense change in exon 5 of TH gene, c.605G > A (p.R202H), which was a known pathogenic mutation, was found in the patient. His parents were heterozygous for the R202H mutation.<br />Conclusion: The age of onset in tyrosine hydroxylase deficiency patients is usually within the first year of life. Unexplained dystonia and hypokinesia were the main clinical features of tyrosine hydroxylase deficiency. The dopa-responsive effects for some patients are so obvious that we should strengthen awareness of the disease. TH gene c.605G > A (p.R202H) may be a common type of causative mutations for the mild form at home and abroad.
- Subjects :
- Brain metabolism
Brain pathology
Catecholamines biosynthesis
Child, Preschool
DNA genetics
DNA Mutational Analysis
Dopamine Agents administration & dosage
Dopamine Agents therapeutic use
Dystonic Disorders drug therapy
Dystonic Disorders metabolism
Homozygote
Humans
Hypokinesia drug therapy
Hypokinesia genetics
Hypokinesia metabolism
Levodopa administration & dosage
Levodopa therapeutic use
Male
Muscle Rigidity drug therapy
Muscle Rigidity genetics
Muscle Rigidity metabolism
Polymerase Chain Reaction
Tyrosine 3-Monooxygenase metabolism
Dystonic Disorders genetics
Mutation, Missense
Tyrosine 3-Monooxygenase deficiency
Tyrosine 3-Monooxygenase genetics
Subjects
Details
- Language :
- Chinese
- ISSN :
- 0578-1310
- Volume :
- 52
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Zhonghua er ke za zhi = Chinese journal of pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 25224241