6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

Demos, Michelle; Waters, Paula J.; Vallance, Hilary; Lillquist, Yolanda; Makhseed, Nawal; Hyland, Keith; Blau, Nenad; Connolly, Mary

doi:10.1002/ana.20532

Cited by 13 publications

(4 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The combined treatment with Sapropterin dihydrochloride and L-DOPA/Decarboxylase inhibitor improved the clinical manifestations of our patients, consistent with the results of other studies [ 5 , 30 , 31 , 32 ].…”

Section: Discussionsupporting

confidence: 92%

Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review

Sur,

Mager,

Bolunduţ

et al. 2023

Children

View full text Add to dashboard Cite

6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neurological damage secondary to this neurotransmitter disorder. We present the first two cases of PTPSD in Romania that were genetically confirmed and treated late. Improving the diagnosis and monitoring procedures in Romania with correct metabolic management will prevent severe neurological impairment from PTPSD or other BH4Ds.

show abstract

Section: Discussionsupporting

confidence: 92%

Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review

Sur,

Mager,

Bolunduţ

et al. 2023

Children

View full text Add to dashboard Cite

show abstract

“…In comparison, NBS was negative in two cases of PTPSD. However, retrospective re-evaluation revealed that the analysis was most likely done by the semiquantitative bacterial inhibition assay (Guthrie method), known to cause falsenegative results [43,44]. In PCDD, all reported cases presented with HPA.…”

Section: Key Diagnostic Test: Newborn Screeningmentioning

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

View full text Add to dashboard Cite

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.

show abstract

“…This is an unusual finding in PTPS deficiency, only rarely reported to date. [14][15][16] These observations suggest the possible existence of a third form of PTPS deficiency (''central-only''), which may elude newborn screening for hyperphenylalaninemia.…”

Section: Discussionmentioning

confidence: 99%

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders

et al. 2015

View full text Add to dashboard Cite

Abnormal concentrations of dopamine and serotonin metabolites in the cerebrospinal fluid is the diagnostic hallmark of a group of treatable conditions known as the monoamine neurotransmitter disorders. We assessed cerebrospinal fluid dopamine and serotonin metabolite concentrations in a series of 69 patients affected by movement disorders of unknown etiology. Abnormal results were disclosed in 13/69 subjects (19%). Both primary and secondary monoamine neurotransmitter disorders were observed. The clinical presentation of both forms was hypokinetic-rigid syndrome or dystonia. L-Dopa treatment resulted in significant improvement of the clinical picture in the majority of primary neurotransmitter disorders. Eight patients presented a secondary neurotransmitter disorder. One suffered from a GM2 gangliosidosis and one from infantile bilateral striatal necrosis. Etiologic diagnoses were not established in the others. L-Dopa was started in four patients, leading to a significant improvement of hypokinesia in the patient suffering from GM2 gangliosidosis and a slight improvement in 3 unclassified patients.

show abstract

6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

Cited by 13 publications

References 10 publications

Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review

Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review

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

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders

Contact Info

Product

Resources

About