Results 31 to 40 of about 6,013 (134)

Evaluation of babies with hyperphenylalaninemia diagnosed in the National Newborn Screening Program in Istanbul in 2019

International Journal of Medical Biochemistry, 2022
INTRODUCTION: To evaluate the 2-year follow-up of hyperphenylalaninemia (HPA) patients born in 2019. METHODS: Growth, neuromotor development, and vitamin levels of 61 two-year-old babies followed up with the diagnosis of HPA in 2019 were evaluated ...
Pelin Savli, Melike Ersoy, Abdullah Emre Güner, Ibrahim Taş   +3 more
doaj   +1 more source

Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study. [PDF]

JIMD Rep
ABSTRACT Phenylketonuria (PKU) is an inherited metabolic disorder causing elevated phenylalanine (Phe) levels and neurocognitive impairment if left untreated. While dietary therapy remains the treatment standard, adherence declines during adolescence. Pegvaliase, an injectable enzyme therapy approved for adults > 18 years in the United States, lowers ...
Hollander S, Valli B, Vucko E, Lah M, Sanchez-Valle A, Murray BM, Kritzer A, Sacharow S.   +7 more
europepmc   +2 more sources

Age-Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria. [PDF]

J Inherit Metab Dis
ABSTRACT The correct diagnosis of tetrahydrobiopterin (BH4, sapropterin dihydrochloride)‐responsive phenylketonuria (PKU) and treatment with BH4 are important for prognosis and quality of life. We examined whether age affects biopterin bioavailability following oral BH4 administration in PKU and whether this influences BH4 responsiveness.
Kitayama K, Sakaguchi T, Nakano N, Kabata D, Shintaku H, Hamazaki T.   +5 more
europepmc   +2 more sources

Re-Purposing Sapropterin (Kuvan) for ACTA2-Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First-In-Human Therapeutic Report. [PDF]

Ann Clin Transl Neurol
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2 ‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction.
Hausman-Kedem M, Bielopolski N, Krishnan V, Wald-Altman S, Shrian SI, Bar-Yosef O, Kapusta L, Shamber C, Musolino PL, Weil M.   +9 more
europepmc   +2 more sources

The first study of successful pregnancies in Chinese patients with Phenylketonuria

BMC Pregnancy and Childbirth, 2020
Background Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common.
Lin Wang, Fang Ye, Hui Zou, Kundi Wang, Zhihua Chen, Qin Hui, Bingjuan Han, Chun He, Xiaowen Li, Ming Shen   +9 more
doaj   +1 more source

Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0–4 years of age

Orphanet Journal of Rare Diseases, 2018
Background Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone.
Ania C. Muntau, Marcel du Moulin, Francois Feillet   +2 more
doaj   +1 more source

Recommendations for the use of sapropterin in phenylketonuria [PDF]

, 2012
Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. Until recently, the only treatment for PKU was a Phe-restricted diet.
Prasad, Suyash, Cederbaum, Stephen, Brown, Mary, Pender, Amy, Wessel, Ann, Chapman, Maggie, Ernst, Sharon, McClure, Julie, O'Steen, Donna, Cunningham, Amy, DeFouw, Kari, McCune, Helen, Bausell, Heather, Shediac, Renée, Skrabal, Jill, Jurecki, Elaina, Gillis, Jane   +16 more
core   +1 more source

Improving sapropterin administration efficacy in PKU: Clinical practice case studies. [PDF]

Mol Genet Metab Rep
In patients with phenylketonuria (PKU), sapropterin dihydrochloride (sapropterin) lowers blood phenylalanine (Phe) and may enhance Phe tolerance in sapropterin responsive patients.
Tosi M, Daly A, Ashmore C, Pinto A, Vijay S, Verduci E, Evans S, MacDonald A.   +7 more
europepmc   +2 more sources

Safety of sapropterin dihydrochloride (6r–bh4) in patients with pulmonary hypertension

Experimental Lung Research, 2010
The authors investigated the safety of oral tetrahydrobiopterin (BH4), a cofactor for nitric oxide synthesis, as a novel treatment for pulmonary hypertension (PH). Eighteen patients with pulmonary arterial hypertension or inoperable chronic thromboembolic PH received sapropterin dihydrochloride (6R-BH4), the optically active form of BH4, in addition to
Ivan M, Robbins, Anna R, Hemnes, J Simon, Gibbs, Brian W, Christman, Luke, Howard, Sharon, Meehan, Ines, Cabrita, Rochelle, Gonzalez, Tracy, Oyler, Lan, Zhao, Rui-Hong, Du, Lisa A, Mendes, Martin R, Wilkins   +12 more
openaire   +2 more sources

Adjusting diet with sapropterin in phenylketonuria:what factors should be considered? [PDF]

, 2011
The usual treatment for phenylketonuria (PKU) is a phenylalanine-restricted diet. Following this diet is challenging, and long-term adherence (and hence metabolic control) is commonly poor.
K. Dokoupil, Anita MacDonald, Anna Maria Lammardo, K. Ahring, A. MacDonald, M. van Rijn, Margreet van Rijn, K. Motzfeldt, Kirsten Ahring, Katharina Dokoupil, Amaya Bélanger-Quintana, van Rijn, Margreet, A. Bélanger Quintana, Hulya Gokmen-Ozel, Júlio César Rocha, M. Robert, Martine Robert, Robert, M., MacDonald, Anita, Ahring, Kirsten, Robert, Martine, Rocha, Julio Cesar, GÖKMEN ÖZEL, HÜLYA, Dokoupil, Katharina, Gokmen-Ozel, Hulya, Lammardo, Anna Maria, Belanger-Quintana, Amaya, H. Gokmen Ozel, Motzfeldt, Kristina, Kristina Motzfeldt, J. C. Rocha, A.M. Lammardo   +31 more
core   +1 more source