Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study

Ye, Jun; Yang, Yanling; Ye, Weimin; Zou, Hui; Jiang, Jian‐Hui; Yang, Rulai; Shang, Sunny; Gu, Xuefan

doi:10.1007/s10545-012-9550-6

Cited by 36 publications

(34 citation statements)

References 18 publications

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“…A series of national and local administrative measures were implemented in 2009 to diminish the geographic differences in the coverage of newborn screening (The technical specification of newborn screening; Mei et al 2013a, b). With the expansion of its coverage, the number of neonates screened increased from 5 million in 2006 to more than 10 million in 2013 (Cao et al 2009; Wang et al 2010; Ye et al 2013). According to the report of “The technical specification of newborn screening”, the proportion of screening was 87.98 %(total number of newborn was 16,714,051, the total number of screened was 14,705,320) in 2013.…”

Section: Introductionmentioning

confidence: 99%

Household financial burden of phenylketonuria and its impact on treatment in China: a cross‐sectional study

Wang

Zou

et al. 2016

J of Inher Metab Disea

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SummaryBackgroundPhenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity, the management of PKU may bring a formidable economic burden to parents and caregivers. It is still unknown what the out-of-pocket expenses are for a patient with PKU in China. This paper explores the household financial burden of classical PKU and its impact on Chinese families in a quantitative manner for the first time.MethodsA non-interventional and observational study was conducted at the China-Japan Friendship Hospital, one of the national centers for inherited metabolic disorders in China. The medical and non-medical household financial burdens were consolidated into a questionnaire to evaluate the out-of-pocket costs (OOPCs) of PKU treatment and follow-up.FindingsThe total OOPCs were USD$3766.1 (0y), USD$3795.2 (1–2 ys), USD$4657.7 (3–4 ys), USD$5979.9 (5–8 ys), and USD$5588.7 (9 ys and older) for PKU patients of different age groups. The median economic burden of classical PKU was 75.0 % of total annual family income (range 1.0–779.1 %), and 94.4 % of the families exceeding the threshold considered as catastrophic expenditure. There was a negative correlation between the financial burden and the proportion of time when Phe concentrations were in the desired target range (120–250 μmol/L) in 0–4-ys group (r = -0.474, p = 0.026).ConclusionsThe management of PKU is associated with a severe financial burden on patients’ families, which may lead to insufficient treatment or variation of blood Phe concentration. The current reimbursement policies are as yet inadequate. A national reimbursement system targeting treatment practices for PKU patients and other rare diseases across China is imperative.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-016-9995-0) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

Household financial burden of phenylketonuria and its impact on treatment in China: a cross‐sectional study

Wang

Zou

et al. 2016

J of Inher Metab Disea

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“…In general, BH 4 is used in combination with l ‐dopa and 5‐HTP, because it is ineffective in correcting neurotransmitter deficiencies due to poor permeability through the blood‐brain barrier . During treatment, the recommendation is to adjust the BH 4 dose to maintain the serum phenylalanine level below 120 μmol/L …”

Section: Resultsmentioning

confidence: 99%

A Systematic Review of Treatment Outcome in Patients with Dopa‐responsive Dystonia (DRD) and DRD‐Plus

Kim

Jeon

Lee

2016

Movement Disord Clin Pract

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Background: Dopa-responsive dystonia (DRD) and DRD-plus are inherited metabolic disorders of the dopamine synthetic pathway that have considerable clinical, biochemical, and genetic heterogeneity. Dopamine is the main deficient neurotransmitter; however, a deficiency in norepinephrine and serotonin can coexist, depending on the gene and its degree of defect. Therefore, even though levodopa is the mainstay of therapy, response to levodopa can be suboptimal and, thus, other drugs are tried. Methods and Results: The authors searched for reports of DRD and DRD-plus and reviewed the drugs used, their response and side effects, and neurologic outcomes, including motor and cognition. Based on the current results, a recommended treatment plan is presented according to the type of enzyme defect in patients with DRD and DRD-plus. Conclusions: It is important to recognize the features of DRD and DRD-plus, because many of them have a good clinical response to the appropriate treatment. The aim of this review is to help guide clinicians with planning treatment for patients with DRD and DRD-plus.

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“…A recent study in Mainland China estimated that only 37.3% of patients had an intelligence quotient below 85, but did not indicate the proportion requiring long-term residential care, and their figures included diseases other than PTPS deficiency and those already picked up by an expanded NBS programme. 52 Other studies have reported that delayed diagnosis and treatment could result in severe disability in 80% of patients in whom PTPS deficiency is the main genetic defect. 21,22 It is usually recommended that indirect costs (for which there is no payment made but for which a cost nonetheless exists) should be included in economic evaluation studies for health policies.…”

Section: Discussionmentioning

confidence: 99%

Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong

Lee¹,

Mak²,

Poon

et al. 2014

J Med Screen

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Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study

Abstract: This study provides valuable information on the current and historical situation of BH4 deficiency in mainland China.

Cited by 36 publications

References 18 publications

Household financial burden of phenylketonuria and its impact on treatment in China: a cross‐sectional study

Household financial burden of phenylketonuria and its impact on treatment in China: a cross‐sectional study

A Systematic Review of Treatment Outcome in Patients with Dopa‐responsive Dystonia (DRD) and DRD‐Plus

Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong

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