Journal of Child and Adolescent Health

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.
Reach Us +1 (202) 780-3397

Short Communication - Journal of Child and Adolescent Health (2022) Volume 6, Issue 3

Sapropterin-treated infants and children with Phenylketonuria.

Maddison Smith*

Department of Women's and Children's Health, University of Liverpool, Liverpool, UK

*Corresponding Author:
Maddison Smith
Department of Women's and Children's Health
University of Liverpool, Liverpool, UK

Received: 04-May-2022, Manuscript No. AAJCAH-22-64332; Editor assigned: 06-May-2022, Pre QC No. AAJCAH -22-64332 (PQ); Reviewed: 20-May-2022, QC No. AAJCAH-22-64332; Revised: 23-May-2022, Manuscript No. AAJCAH -22-64332 (R); Published: 30-May-2022, DOI: 10.35841/aajcah-6.3.114

Citation: Smith M. Sapropterin-treated infants and children with Phenylketonuria. 2022;6(3):114

Visit for more related articles at Journal of Child and Adolescent Health


Sapropterin dihydrochloride has been approved for the treatment of hyperphenylalaninemia in infants and young children with phenylketonuria (PKU). Sapropterin can decrease phenylalanine levels in tetrahydrobiopterin (BH4)- responsive patients, possibly forestalling the scholarly weakness brought about by raised Phe levels. The long-term effect of sapropterin on intellectual functioning was assessed using the Full-Scale Intelligence Quotient (FSIQ) in 62 children who began treatment before the age of 6 years. Over every 2-year stretch, the gauge of mean change in FSIQ was ?0.5768 with a lower cut-off of the 95% certainty span (CI) of ?1.60. Toward the finish of the subsequent period (Year 7), the least squares mean gauge of the adjustment of FSIQ from benchmark was 1.14 with a lower breaking point of the 95% CI of ?3.53. These lower limits were both inside the clinically anticipated variety of 5 places. During the entire review time frame, mean blood Phe levels stayed inside the American College of Medical Genetics (ACMG) target scope of 120-360 ?mol/L. Likewise, level, weight, and head boundary were kept up with inside ordinary reaches all through follow-up, as characterized by development diagrams from the World Health Organization (WHO) and Centers for Disease Control and Prevention (CDC) for youngsters beneath or more the age of two years, separately. All patients signed up for this study experienced something like one unfriendly occasion, true to form from past investigations. Taking everything into account, long haul utilization of sapropterin in people with PKU assists with controlling blood Phe, safeguard scholarly working, and keep up with ordinary development in BH4-responsive youngsters who started treatment between the ages of 0 to 6 years.


Phenylketonuria, Sapropterin, Intellectual working.


Phenylketonuria (PKU) is a rare autosomal recessive disorder caused by mutation in the gene coding for the hepatic enzyme phenylalanine hydroxylase (PAH). PAH converts the essential amino acid phenylalanine to tyrosine, a process that requires the enzyme cofactor tetrahydrobiopterin. Untreated PKU is portrayed by raised blood and mind Phe levels bringing about impeding impacts on mental health and capacity. Current treatment rules suggest long lasting blood Phe control with an objective scope of 120-360 μmol/L.

Among children with PKU, it is well established that poor control of blood Phe during the first 12 years of age leads to a decrease in intelligence quotient (IQ), with the strongest inverse association between IQ and blood Phe levels appearing in children under 10 years of age. In light of this information, treatment rules reliably suggest starting PKU the board following analysis, which is typically not long after birth, since PKU is important for all infant screening programs in created nations [1]. The backbone of PKU therapy is a Phe-confined diet enhanced with clinical food. Early dietary treatment can forestall most extreme long haul neurological and mental inconveniences of PKU and can keep up with scholarly working inside the ordinary reach. Nonetheless, dietary administration is testing and unfortunate adherence to dietary limitations brings about blood Phe levels over the rule suggested edge in around 12-28% of kids with PKU younger than 4 years. Besides, care ought to be taken to forestall healthful inadequacies connected with dietary administration, which might result in substandard development results. +Sapropterin dihydrochloride (KUVAN®, Bio Marin Pharmaceutical In and Novato, CA, USA) is an oral manufactured plan of the 6R-isomer of BH4 showcased in more than 58 nations [2]. Both the Food and Drug Administration (FDA) and the European Medicines Agency (EMA) have supported the utilization of sapropterin for the treatment of hyperphenylalaninemia (HPA) in BH4- responsive PKU patients of any age, including patients underneath the age of 4 years.

The current evaluated the long-term safety of sapropterin and its effect on the maintenance of blood Phe levels, intellectual functioning, and growth in children with PKU aged 0–6 years at treatment initiation. The point was to supplement existing proof in more seasoned people with PKU from finished sapropterin clinical examinations, including twofold visually impaired fake treatment controlled preliminaries that laid out the wellbeing and viability of sapropterin [3]. Also, this study supplements the proof in youngsters <4 years old at enlistment from the European Safety Pediatric efficacy pharmacokinetic with Kuvan® (SPARK, NCT01376908) study. The SPARK study comprised of an underlying, 26-week long, openmark, randomized stage IIIb preliminary, which showed that sapropterin related to abstain from food was all around endured and altogether expanded Phe resistance in kids <4 years old with BH4-responsive PKU [4,5].


The PKU-015 study allowed evaluation of the long-term safety of sapropterin and the assessment of intellectual functioning and growth parameters in children with PKU who initiated treatment with sapropterin within the age range of 0 to 6 years. Sapropterin was for the most part very much endured in this quiet populace. What's more, youngsters with PKU treated with sapropterin and a Phe-limited diet had the option to keep up with blood Phe focuses inside the objective scope of 120- 360 μmol/L north of seven years follow-up, while expanding dietary Phe resilience. As shown here, long haul support of blood Phe fixation inside this target range is related with the protection of typical scholarly working and development. This outcome upholds sapropterin reaction testing in earliest stages and commencement of sapropterin in those babies and small kids who are determined to have sapropterin-responsive PKU.


  1. Huttenlocher PR. The neuropathology of phenylketonuria: human and animal studies. Eur J Pediatr.2000;159(2):S102-6.
  2. Indexed at, Google scholar, Cross ref

  3. Costa LG, Guizzetti M, Burry M, et al. Developmental neurotoxicity: do similar phenotypes indicate a common mode of action? A comparison of fetal alcohol syndrome, toluene embryopathy and maternal phenylketonuria. Toxicol Lett. 2002;127(1-3):197-205.
  4. Indexed at, Google scholar, Cross ref

  5. Vockley J, Andersson HC, Antshel KM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16(2):188-200.
  6. Indexed at, Google scholar, Cross ref

  7. Van Wegberg AM, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):1-56.
  8. Indexed at, Google scholar, Cross ref

  9. Enns GM, Koch R, Brumm V, et al. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet  Metab. 2010;101(2-3):99-109.
  10. Indexed at, Google scholar, Cross ref

Get the App