Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders

Kuseyri, Oya; Weissbach, Anne; Brüggemann, Norbert; Klein, Christine; Giżewska, Maria; Scholl‐Bürgi, Sabine; Romanowska, Hanna; Krzywińska-Zdeb, Elżbieta; Monavari, Ahmad; Knerr, Ina; Yapıcı, Zühal; Leuzzi, Vincenzo; Opladen, Thomas

doi:10.1007/s10545-018-0169-0

Cited by 7 publications

(2 citation statements)

References 65 publications

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“…The issues described were most likely due to the pregnancy itself and not to the fetal disease. Exceptions were those cases in which mothers were affected by adGTPCHD, consistent with previous literature 13 . First symptoms of disorders of biogenic amines typically occur in the neonatal period or in infancy.…”

Section: Discussionsupporting

confidence: 89%

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

et al. 2021

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Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders.

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Section: Discussionsupporting

confidence: 89%

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

et al. 2021

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“…There are few cases in the literature reporting obstetric and paediatric outcomes in pregnancies of patients with BH 4 Ds [157]. It is important to control disease-related symptoms, adjust the treatment if needed, and monitor the development of the foetus.…”

Section: Pregnancymentioning

confidence: 99%

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Opladen

López‐Laso

Cortès‐Saladelafont

et al. 2020

Orphanet J Rare Dis

104

124

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Background: Tetrahydrobiopterin (BH 4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH 4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH 4 deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I deficiency and sepiapterin reductase deficiency. Early supplementation of neurotransmitter precursors and where appropriate, treatment of HPA results in significant improvement of motor and cognitive function. Management approaches differ across the world and therefore these guidelines have been developed aiming to harmonize and optimize patient care. Representatives of the International Working Group on Neurotransmitter related Disorders (iNTD) developed the guidelines according to the SIGN (Scottish Intercollegiate Guidelines Network) methodology by evaluating all available evidence for the diagnosis and treatment of BH 4 deficiencies. Conclusion: Although the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH 4 deficient patients.

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Disorders of Metabolism of Amino Acids and Related Compounds

Gropman¹,

Arnold²,

Vockley³

2021

Genetic Disorders and the Fetus

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Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders

Cited by 7 publications

References 65 publications

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Disorders of Metabolism of Amino Acids and Related Compounds

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