A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection [PDF]
International Journal of Neonatal ScreeningDNAJC12-deficient hyperphenylalaninemia is a recently described inborn error of metabolism associated with hyperphenylalaninemia, neurotransmitter deficiency, and developmental delay caused by biallelic pathogenic variants of the DNAJC12 gene.
Colleen Donnelly +3 more
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Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia [PDF]
Pediatric Research, 1991 Some cases of primary hyperphenylalaninemia are not caused by the lack of phenylalanine hydroxylase, but by the lack of its cofactor tetrahydrobiopterin. These patients are not clinically responsive to a phenylalanine-restricted diet, but need specific substitution therapy. Thus, it became necessary to examine all newborns screened as positive with the
A Ponzone +5 more
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Management of Phenylketonuria and Hyperphenylalaninemia [PDF]
The Journal of Nutrition, 2007 Hyperphenylalaninemia (HPA) is the most frequently inherited disorder of amino acid metabolism (prevalence 1:10,000). In France, a nationwide neonatal screening was organized in 1978 to control its efficacy and patient follow-up. Phenylketonuria (PKU) was diagnosed in 81.6% of screened patients, the remaining affected with either non-PKU HPA (17.2%) or
Hélène Ogier de Baulny +3 more
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Micronutrient in hyperphenylalaninemia
Data in Brief, 2015 The data presented here are the biochemical parameters of 156 patients with hyperphenylalaninemia. PKU patients, who, in order to maintain optimal serum Phe concentrations, receive dietary treatment consisting of a diet low in natural protein ...
Vanesa Crujeiras +8 more
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DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings [PDF]
Mol Genet Metab Rep, 2023 Background: DNAJC12 co-chaperone protein deficiency has been recently described as a stand-alone metabolic disorder explaining many cases of mild hyperphenylalaninemia (HPA) that are not caused by variants in the PAH gene, which encodes for the hepatic ...
Balestrini, S +4 more
core +2 more sources
DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified [PDF]
International Journal of Neonatal ScreeningDNAJC12 deficiency is a recently described inherited metabolic disorder resulting in hyperphenylalaninemia and neurotransmitter deficiency. The effect of treatment on the prevention of neurological manifestations in this newly reported and heterogenous ...
Tsz Sum Wong +11 more
doaj +2 more sources
Extensive Dysregulation of Phenylalanine Metabolism Is Associated With Stress Hyperphenylalaninemia and 30‐Day Death in Critically Ill Patients With Acute Decompensated Heart Failure [PDF]
Journal of the American Heart Association: Cardiovascular and Cerebrovascular DiseaseBackground Stress hyperphenylalaninemia predicts elevated mortality rates in patients with acute decompensated heart failure (ADHF). This study investigated the metabolic pathways underlying this association and identified a unique metabolic phenotype ...
Wei‐Siang Chen +6 more
doaj +2 more sources
Safety assessment of sapropterin dihydrochloride: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS) [PDF]
Frontiers in PharmacologyObjectiveSapropterin dihydrochloride is the first drug for the therapy of phenylketonuria, which is a rare disease that occurs one of 10,000–15,000 newborns.
Jiahong Zhong, Xihui Yu, Zhuomiao Lin
doaj +2 more sources
Biopterin-Responsive Hyperphenylalaninemia
Journal of Nutritional Science and Vitaminology, 1992 Seymour Kaufman
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Cognitive functioning in mild hyperphenylalaninemia
Molecular Genetics and Metabolism Reports, 2015 Background: Hyperphenylalaninemia is a hereditary metabolic disorder that causes elevated blood phenylalanine (Phe). Hyperphenylalaninemias are classified as Phenylketonuria PKU (Phe > 6 mg/dL) or mild hyperphenylalaninemia (mHPA) (Phe 2–6 mg/dL).
Alicia de la Parra +4 more
doaj +5 more sources