Extremely low birthweight neonates with phenylketonuria require special dietary management

Zemanová, Markéta; Chrastina, Petr; Sebroň, Václav; Procházková, Dagmar; Jahnová, Helena; Sanakova, Petra; Procházková, Lucie; Tesarová, B; Zeman, Jiří

doi:10.1111/apa.16035

Cited by 3 publications

(3 citation statements)

References 17 publications

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“…Additionally, no case reports concerning EN for adults with PKU have been published to date. Only a few cases in pediatrics, most of them focused on preterm infants or low-weight newborns, are available [24][25][26]. It should be emphasized that none of these reports consider artificial nutrition via tube feeding in exclusivity.…”

Section: Discussionmentioning

confidence: 99%

Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge—A Case Report

Pané,

Carrasco-Serrano,

Milad

et al. 2023

JCM

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Phenylketonuria (PKU) is the most frequent of the congenital errors of amino acid (AA) metabolism worldwide. It leads to the accumulation of the essential AA phenylalanine (Phe) and it is associated with severe neurological defects. The early diagnosis and treatment of this rare disease, achieved through newborn screening and low-Phe diet, has profoundly changed its clinical spectrum, resulting in normal cognitive development. We face the first generation of PKU patients perinatally diagnosed and treated who have reached adulthood, whose special needs must be addressed, including feeding through enteral nutrition (EN). However, recommendations regarding EN in PKU constitute a gap in the literature. Although protein substitutes for patients with PKU are offered in multiple forms (Phe-free L-amino acid or casein glycomacropeptide supplements), none of these commercial formulas ensures the whole provision of daily total energy and protein requirements, including a safe amount of Phe. Consequently, the combination of different products becomes necessary when artificial nutrition via tube feeding is required. Importantly, the composition of these specific formulas may result in physicochemical interactions when they are mixed with standard EN products, leading to enteral feeding tubes clogging, and also gastrointestinal concerns due to hyperosmolality. Herein, we present the first reported case of EN use in an adult patient with PKU, where the separate administration of protein substitutes and the other EN products avoided physicochemical interactions.

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Section: Discussionmentioning

confidence: 99%

Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge—A Case Report

Pané,

Carrasco-Serrano,

Milad

et al. 2023

JCM

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“…Obsah fenylalaninu ve vybraných potravinách je uveden v tabulce 3. přísnost diety závisí na individuální toleranci pacienta k fenylalaninu, která se zvyšuje v období rychlého růstu. (8) Naopak nejpřísnější dietu je třeba dodržovat v přípravě na graviditu a v graviditě, protože vysoká hladina fenylalaninu v průběhu těhotenství poškozuje vývoj plodu.…”

Section: Hyperfenylalaninemie (Klasická Fenylketonurie Mírná Hyperfen...unclassified

Inborn errors of amino acid, organic acid metabolism and disorders of the urea cycle

Honzík¹,

Zeman²

2022

Czech-Slovak Pediatrics

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Inborn errors of amino acid, organic acid metabolism and disorders of the urea cycle tomáš honzík, Jiří Zeman klinika pediatrie a dědičných poruch metabolismu 1. lF uk a VFn, praha práce vznikla s podporou projektu rVo-VFn64165 a v rámci programu cooperatio, vědní oblasti "pediatrie". souhrn honzík t, Zeman J. dědičné poruchy metabolismu aminokyselin, organických kyselin a cyklu močoviny úvod: dědičně podmíněné poruchy metabolismu (dpM) aminokyselin (aMk), organických kyselin (oa) a cyklu močoviny (ucd) představují heterogenní skupinu 135 různých onemocnění způsobených porušenou syntézou, transportem či odbouráváním aMk, oa a amoniaku. Jednotlivá onemocnění jsou vzácná, ale celkový výskyt v populaci je 1 : 3000-4000. metodika: práce shrnuje klinické, diagnostické a terapeutické aspekty nejčastějších dpM-aMk, oa a ucd. osm nemocí je součástí laboratorního novorozeneckého screeningu, diagnostika ostatních dpM závisí na klinickém podezření, stanovení amoniaku v krvi a rychlé indikaci selektivního metabolického screeningu.Výsledky: dpM-aMk, oa a ucd se klinicky projevují akutním nebo subakutním rozvratem metabolismu s metabolickou alkalózou nebo acidózou a následným postižením funkcí jater, ledvin a/nebo mozku nebo pomalu progredujícím postižením cns se zpomalením vývoje a poruchou kognitivních funkcí. do první skupiny patří oa, tyrosinemie typu 1, leucinóza a ucd, které se projevují hromaděním toxických metabolitů vznikajících při degradaci aminokyselin. do druhé skupiny patří fenylketonurie a homocystinurie, u které se přidružuje i postižení očí, kostí a/nebo tromboembolické příhody.Závěr: adekvátní terapie závisí na včasné diagnostice. u pacientů s akutním postižením mozku, například při těžké hyperamonemii, se používají eliminační metody. u pacientů s pomaleji progredujícím onemocněním se uplatňuje celoživotní nízkobílkovinná dieta suplementovaná potravinami pro zvláštní lékařské účely, vitaminoterapie a chaperonová terapie podporující aktivity postižených enzymů a snaha blokovat či aktivovat alternativní metabolické dráhy. Zvyšuje se počet onemocnění, u kterých se používá enzymová substituční terapie či transplantace jater nebo ledvin. nově probíhají trialy s genovou terapií. klíčová slova: dědičné poruchy metabolismu, fenylketonurie, homocystinurie, tyrosinemie, leucinóza, glycinová encefalopatie, organické acidurie, poruchy cyklu močoviny summary honzík t, Zeman J. inborn errors of amino acid, organic acid metabolism and disorders of the urea cycle introduction: inborn errors of amino acid (aa), organic acid (oa) metabolism and disorders of the urea cycle (ucd) represent a heterogeneous group of 135 different diseases caused by impaired synthesis, transport or degradation of aa, oa and ammonia. individual diseases are rare, but the overall incidence in the population is 1:3000-4000. methodology: the work summarizes the clinical, diagnostic and therapeutic aspects of the most common inborn errors of aa, oa metabolism and ucd. eight diseases are part of laboratory neonatal screening, diagnosis of other ieMs depe...

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“…[2][3][4] The breath, urine, and sweat of PKU patients have a musty odor, and they exhibit developmental retardation. Newborn babies with PKU may have low birth weights, small heads, slow growth rates, and heart diseases, 5,6 and these symptoms can lead to serious health problems. Most patients with PKU should consume low-protein or low-PHE diets.…”

Section: Introductionmentioning

confidence: 99%

Quantification of derivatized phenylalanine and tyrosine in dried blood spots using liquid chromatography with tandem spectrometry for newborn screening of phenylketonuria

Duh,

Liang,

Shen

et al. 2024

Eur J Mass Spectrom (Chichester)

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Phenylketonuria (PKU) is an autosomal genetic disorder caused by a deficiency of the phenylalanine hydroxylase (PAH) enzyme. The lack of PAH results in the inability of phenylalanine (PHE) to transform into tyrosine (TYR). Consequently, this leads to the accumulation of PHE in the blood samples of newborns causing metabolic diseases such as irreversible neurological problems. An analysis was required for determining the values of PHE and TYR in blood samples from newborn babies. In this study, therefore, we developed a derivatized method to monitor PHE and TYR in plasma samples using liquid phase chromatography linked with quadrupole mass spectrometry. Accessible formaldehyde isotopes and cyanoborohydride were used to react with PHE and TYR amino groups to generate h2-formaldehyde-modified PHE and TYR (as standards) and d2-formaldehyde-modified PHE and TYR (as internal standards). We used tandem mass spectrometry for multiple reaction monitoring. We demonstrated a derivatized method suitable for the PKU screening of newborns. The recoveries for PHE and TYR were 85% and 90%, respectively. Furthermore, we compared the values of PHE and TYR in different human plasma sample storage methods, including direct plasma and dried blood spots, and the results showed no significant difference.

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Extremely low birthweight neonates with phenylketonuria require special dietary management

Cited by 3 publications

References 17 publications

Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge—A Case Report

Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge—A Case Report

Inborn errors of amino acid, organic acid metabolism and disorders of the urea cycle

Quantification of derivatized phenylalanine and tyrosine in dried blood spots using liquid chromatography with tandem spectrometry for newborn screening of phenylketonuria

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