O61 – 1802 Tyrosine hydroxylase deficiency. The Greek experience

Pons, Roser; Syrengelas, D.; Γκίκα, Α.; Dinopoulos, Argyrios; Orfanou, I; Serrano, María del Remedio Guna; Artuch, R; Youroukos, Sotiris

doi:10.1016/s1090-3798(13)70063-1

Cited by 2 publications

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“…Higher residual DAT activity may postpone the age of disease onset. Similar phenotypic continuums (influenced by the level of residual protein function) are observed in other neurotransmitter disorders such as tyrosine hydroxylase deficiency ( Willemsen et al , 2010 ; Pons et al , 2013 ).…”

Section: Discussionmentioning

confidence: 55%

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Zhen

Meyer³

et al. 2014

Brain

140

199

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Section: Discussionmentioning

confidence: 55%

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Zhen

Meyer³

et al. 2014

Brain

140

199

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“…More recently, an intermediate clinical phenotype has been reported [ 43 ]. Additionally, within the type A subgroup, there are also some children who present later in childhood with gait instability and walking difficulties [ 42 ], suggesting an expanding phenotypic spectrum of disease.…”

Section: Disorder Of Dopamine Synthesismentioning

confidence: 99%

Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders

Heales

Kurian

2014

Pediatr Drugs

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Childhood neurotransmitter disorders are increasingly recognised as an expanding group of inherited neurometabolic syndromes. They are caused by disturbance in synthesis, metabolism, and homeostasis of the monoamine neurotransmitters, including the catecholamines (dopamine, norepinephrine, and epinephrine) and serotonin. Disturbances in monoamine neurotransmission will lead to neurological symptoms that often overlap with clinical features of other childhood neurological disorders (such as hypoxic ischaemic encephalopathy, cerebral palsy, other movement disorders, and paroxysmal conditions); consequently, neurotransmitter disorders are frequently misdiagnosed. The diagnosis of neurotransmitter disorders is made through detailed clinical assessment, analysis of cerebrospinal fluid neurotransmitters, and further supportive diagnostic investigations. Early and accurate diagnosis of neurotransmitter disorders is important, as many are amenable to therapeutic intervention. The principles of treatment for monoamine neurotransmitter disorders are mainly directly derived from understanding these metabolic pathways. In disorders characterized by enzyme deficiency, we aim to increase monoamine substrate availability, boost enzyme co-factor levels, reduce monoamine breakdown, and replace depleted levels of monoamines with pharmacological analogs as clinically indicated. Most monoamine neurotransmitter disorders lead to reduced levels of central dopamine and/or serotonin. Complete amelioration of motor symptoms is achievable in some disorders, such as Segawa’s syndrome, and, in other conditions, significant improvement in quality of life can be attained with pharmacotherapy. In this review, we provide an overview of the clinical features and current treatment strategies for childhood monoamine neurotransmitter disorders.

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O61 – 1802 Tyrosine hydroxylase deficiency. The Greek experience

Cited by 2 publications

References 0 publications

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders

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