autosomal recessive Segawa syndrome

Also Known As:

Segawa syndrome, autosomal recessive; Autosomal Recessive Infantile Parkinsonism; DOPA responsive dystonia, autosomal recessive; Dopa-Responsive Dystonia, Autosomal Recessive; Dystonia, DOPA responsive, autosomal recessive; Dystonia, Dopa-Responsive, Autosomal Recessive; Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive; Parkinsonism, infantile, autosomal recessive; Th-Deficient Drd; Tyrosine Hydroxylase Deficiency

Networked: 35 relevant articles (2 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Movement Disorders: 4634
    - Dystonic Disorders: 807
      - autosomal recessive Segawa syndrome: 35

Related Diseases

1.	Dyskinesias (Dyskinesia)
2.	Dystonia (Limb Dystonia)
3.	Movement Disorders (Movement Disorder)
4.	Brain Diseases (Brain Disorder)
5.	Dopa-responsive Dystonia

Experts

1.	Wevers, R A: 5 articles (10/2004 - 04/2000)
2.	Flydal, Marte I: 3 articles (11/2021 - 10/2015)
3.	Martinez, Aurora: 3 articles (11/2021 - 10/2015)
4.	Hoffmann, Georg F: 3 articles (01/2021 - 01/2003)
5.	Pons, Roser: 3 articles (01/2021 - 07/2013)
6.	Wevers, Ron A: 3 articles (06/2010 - 03/2002)
7.	Pearl, Phillip L: 3 articles (05/2007 - 03/2004)
8.	Artuch, Rafael: 2 articles (01/2021 - 07/2013)
9.	Friedman, Jennifer: 2 articles (01/2021 - 01/2021)
10.	Horvath, Gabriella: 2 articles (01/2021 - 01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to autosomal recessive Segawa syndrome:

1.	Levodopa (L Dopa)FDA LinkGeneric 06/01/2010 - "Most patients with tyrosine hydroxylase deficiency can be successfully treated with l-dopa." 01/01/2021 - "Teaching Video NeuroImage: Improvement in Motor Development After Start of Levodopa in Tyrosine Hydroxylase Deficiency." 10/01/2015 - "We generated homozygous Th knock-in mice with the mutation Th-p.R203H, equivalent to the most recurrent human mutation associated with type B tyrosine hydroxylase deficiency (TH-p.R233H), often unresponsive to l-DOPA treatment. " 07/01/2013 - "Clinical observation was carried out on 6 patients who were diagnosed with tyrosine hydroxylase deficiency and were treated with escalating doses of l-dopa. " 02/01/2012 - "We analyzed the clinical manifestations, genetic mutations, treatment responses to L-dopa, and long-term neurologic outcomes in Taiwanese infants with tyrosine hydroxylase deficiency. "
2.	Neurotransmitter Agents (Neurotransmitter)IBA 05/01/2020 - "This diagnosis was revised after confirmation of tyrosine hydroxylase deficiency by CSF neurotransmitter analysis. " 06/15/2017 - "Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder. " 04/01/2010 - "Tyrosine hydroxylase deficiency is a rare neurotransmitter disorder affecting the rate-limiting step in catecholamine biosynthesis. " 04/01/2000 - "Tyrosine hydroxylase deficiency was diagnosed after determination of cerebrospinal fluid neurotransmitters and DNA analysis in a child with severe axial hypotonia and hypokinesia associated with dystonic and ballistic movements. " 01/01/2006 - "Analyses of total biopterin and neopterin as well as neurotransmitter metabolites in CSF appear to be useful for the diagnosis of GTPCH-deficient DRD (the major form of DRD) and of TH-deficient DRD (the mild form of TH deficiency). "
3.	Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)IBA 02/01/2012 - "From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutations on the tyrosine hydroxylase gene. " 01/01/2012 - "Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency." 09/01/1998 - "We report the biochemical hallmarks of tyrosine hydroxylase deficiency with emphasis on reliable diagnostic strategies of four new cases of an inborn error of tyrosine hydroxylase (TH). " 10/01/2015 - "Mutations in the TH gene encoding tyrosine hydroxylase are associated with the autosomal recessive disorder tyrosine hydroxylase deficiency, which manifests phenotypes varying from infantile parkinsonism and DOPA-responsive dystonia, also termed type A, to complex encephalopathy with perinatal onset, termed type B. " 11/01/2023 - "Tyrosine hydroxylase deficiency (THD) is a rare movement disorder with broad phenotypic expression caused by bi-allelic mutations in the TH gene, which encode for tyrosine hydroxylase (TH) protein. "
4.	CatecholaminesIBA 10/01/2015 - "Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency." 06/01/2010 - "Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral catecholamine deficiency. " 06/01/2010 - "Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis." 03/01/2002 - "Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy." 04/01/2010 - "Tyrosine hydroxylase deficiency is a rare neurotransmitter disorder affecting the rate-limiting step in catecholamine biosynthesis. "
5.	Proteins (Proteins, Gene)FDA Link 06/01/2010 - "Tyrosine hydroxylase deficiency is almost exclusively caused by missense mutations in the TH gene and its promoter region, suggesting that mutations with more deleterious effects on the protein are incompatible with life. " 01/01/2006 - "Findings of the precise mechanism of striatal TH protein loss in GTPCH-deficient DRD, the actual status of dopaminergic systems in TH-deficient DRD, and the novel causative gene on the DYT14 locus will better define the pathogenesis of DRD." 01/01/2015 - "Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency." 11/01/2023 - "Tyrosine hydroxylase deficiency (THD) is a rare movement disorder with broad phenotypic expression caused by bi-allelic mutations in the TH gene, which encode for tyrosine hydroxylase (TH) protein. "
6.	Dopamine (Intropin)FDA LinkGeneric 09/01/2022 - "Tyrosine hydroxylase deficiency (THD) is a treatable inborn error of dopamine biosynthesis caused by mutations in TH. " 06/01/2009 - "In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by loss-of-function mutations in DAT that impair dopamine reuptake (see the related article beginning on page 1595). " 05/01/2007 - "The disorders of dopamine and serotonin synthesis are aromatic amino acid decarboxylase deficiency, tyrosine hydroxylase deficiency, and disorders of tetrahydrobiopterin synthesis. "
7.	Homovanillic AcidIBA 06/01/2010 - "Decreased cerebrospinal fluid concentrations of homovanillic acid and 3-methoxy-4-hydroxyphenylethylene glycol, with normal 5-hydroxyindoleacetic acid cerebrospinal fluid concentrations, are the biochemical hallmark of tyrosine hydroxylase deficiency. " 06/01/1999 - "Decreased CSF levels of homovanillic acid (HVA) and 3-methoxy-4-hydroxyphenylethyleneglycol (MHPG), together with normal pterin and CSF tyrosine and 5-hydroxyindoleacetic acid (5-HIAA) concentrations are the diagnostic hallmarks of tyrosine hydroxylase deficiency. "
8.	Guanosine Triphosphate (GTP)IBA 10/01/2015 - "At the milder end of the clinical spectrum is the autosomal-dominant guanosine triphosphate cyclohydrolase deficiency syndrome (GTPCH-DRD), and at the more severe end is the much less common autosomal recessive tyrosine hydroxylase deficiency syndrome (TH-DRD), with intermediate forms in between. " 03/01/2004 - "Of the monoamine group, these are Segawa disease or guanosine triphosphate-cyclohydrolase I deficiency, aromatic L-amino acid decarboxylase deficiency, and tyrosine hydroxylase deficiency. "
9.	Aromatic-L-Amino-Acid DecarboxylasesIBA 01/01/2021 - "Two patients imaged after acute severe encephalopathy had signs of profound hypoxic-ischemic injury and a combination of deep gray matter and watershed injury (aromatic l-amino acid decarboxylase (AADCD), tyrosine hydroxylase deficiency (THD)). " 11/01/2006 - "Aromatic amino acid decarboxylase and tyrosine hydroxylase deficiency have more severe phenotypes and show variable responsiveness to levodopa. "
10.	AcidsIBA 06/01/2010 - "Decreased cerebrospinal fluid concentrations of homovanillic acid and 3-methoxy-4-hydroxyphenylethylene glycol, with normal 5-hydroxyindoleacetic acid cerebrospinal fluid concentrations, are the biochemical hallmark of tyrosine hydroxylase deficiency. " 06/01/1999 - "Decreased CSF levels of homovanillic acid (HVA) and 3-methoxy-4-hydroxyphenylethyleneglycol (MHPG), together with normal pterin and CSF tyrosine and 5-hydroxyindoleacetic acid (5-HIAA) concentrations are the diagnostic hallmarks of tyrosine hydroxylase deficiency. "

Therapies and Procedures

1.	Therapeutics 10/01/2015 - "This hypomorphic mouse model thus provides understanding on pathomechanisms in type B tyrosine hydroxylase deficiency and a platform for the evaluation of novel therapeutics for movement disorders with loss of dopaminergic input to the striatum. " 04/01/2000 - "Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy."
2.	Precision Medicine 11/12/2021 - "Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia-A Focus on Tyrosine Hydroxylase Deficiency."