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Tyrosine hydroxylase deficiency
- Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement. There are three forms of tyrosine hydroxylase deficiency, and they are categorized ...
- ... gene is often considered a mild form of tyrosine hydroxylase deficiency. More About This Health Condition Many variants in ... TH gene have been identified in people with tyrosine hydroxylase deficiency. This is a condition that primarily affects movement ...
- ... course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Neurology. 2004 Oct 26;63(8):1524-6. ... Low L. Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. J Child Neurol. 2011 Feb;26(2):179- ...
- Dystonia (National Library of Medicine)Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes ...
- Autonomic Nervous System Disorders (National Library of Medicine)Your autonomic nervous system is the part of your nervous system that controls involuntary actions, such as the beating of your heart and the widening or ...
- ... For example, it works with the enzyme phenylalanine hydroxylase to convert an amino acid ... to cause tetrahydrobiopterin deficiency. When this condition is caused by PTS gene ...
- ... GCH1 gene have been found to cause tetrahydrobiopterin deficiency. When this condition is caused by GCH1 gene ... it is known as GTP cyclohydrolase 1 (GTPCH1) deficiency. GTPCH1 deficiency accounts for about 4 percent of ...
- ... QDPR gene have been found to cause tetrahydrobiopterin deficiency. When this condition results from QDPR gene mutations, it is known as dihydropteridine reductase (DHPR) deficiency. DHPR deficiency accounts for about one-third of ...
- ... PCBD1 gene have been found to cause tetrahydrobiopterin deficiency. When this condition results from PCBD1 gene mutations, ... known as pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency. PCD deficiency accounts for about 5 percent of ...
- ... Gene ClinVar Arnold G, Vockley J. Phenylalanine Hydroxylase Deficiency. 2000 Jan 10 [updated 2025 Mar 13]. In: ... and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab. 2004 Jun;82(2):101- ...
