Assessment of the phenylketonuria (PKU)-associated mutation p.R155H biochemical manifestations by mass spectrometry-based blood metabolite profiling

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Assessment of the phenylketonuria (PKU)-associated mutation p.R155H biochemical manifestations by mass spectrometry-based blood metabolite profiling. / Baturina, O. A.; Chernonosov, A. A.; Koval, V. V. и др.

в: Acta Naturae, Том 11, № 2, 16.08.2019, стр. 42-46.

Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование

BibTeX

@article{94d266df57b24ae69ac1358a19d138b9,

title = "Assessment of the phenylketonuria (PKU)-associated mutation p.R155H biochemical manifestations by mass spectrometry-based blood metabolite profiling",

abstract = "Homozygous siblings with different treatment histories represent an excellent model to study both the phenotypic manifestation of mutations and the efficacy of therapy. We compared phenylketonuria (PKU) manifestations in two different gender siblings who were homozygous carriers of a rare phenylalanine hydroxylase (PAH) mutation, p.R155H, subjected to different treatments. PKU caused by mild mutations may be easily underdiagnosed if the diagnosis is based solely on the phenylalanine (Phe) blood concentration. One of the described patients is an example of this diagnostic error. For reducing diagnostic errors, we suggest the use of more elaborate methods in screening practice, in particular mass spectrometric analysis of blood metabolites, the efficiency of which is demonstrated in the present study.",

keywords = "Blood carnitine, Blood phenylalanine, Hyperphenylalaninemia, Mass spectrometry, Missense mutation, P.R155H, Phenylketonuria, CARNITINE, blood phenylalanine, hyperphenylalaninemia, missense mutation, DEFICIENCY, SPECIMENS, TYROSINE, p.R155H, blood carnitine, mass spectrometry, PHENYLALANINE, phenylketonuria",

author = "Baturina, {O. A.} and Chernonosov, {A. A.} and Koval, {V. V.} and Morozov, {I. V.}",

note = "Батурина О.А., Черноносов А.А., Коваль В.В., Морозов И.В. Оценка степени проявления фенилкетонурии, обусловленной гомозиготной мутацией p.R155H, при помощи масс спектрометрического анализа метаболитов крови // ActaNaturae. - 2019. - Т. 11. - № 2. - С. 42-46",

year = "2019",

month = aug,

day = "16",

doi = "10.32607/20758251-2019-11-2-42-46",

language = "English",

volume = "11",

pages = "42--46",

journal = "Acta Naturae",

issn = "2075-8251",

publisher = "Park Media Ltd.",

number = "2",

}

RIS

TY - JOUR

T1 - Assessment of the phenylketonuria (PKU)-associated mutation p.R155H biochemical manifestations by mass spectrometry-based blood metabolite profiling

AU - Baturina, O. A.

AU - Chernonosov, A. A.

AU - Koval, V. V.

AU - Morozov, I. V.

N1 - Батурина О.А., Черноносов А.А., Коваль В.В., Морозов И.В. Оценка степени проявления фенилкетонурии, обусловленной гомозиготной мутацией p.R155H, при помощи масс спектрометрического анализа метаболитов крови // ActaNaturae. - 2019. - Т. 11. - № 2. - С. 42-46

PY - 2019/8/16

Y1 - 2019/8/16

N2 - Homozygous siblings with different treatment histories represent an excellent model to study both the phenotypic manifestation of mutations and the efficacy of therapy. We compared phenylketonuria (PKU) manifestations in two different gender siblings who were homozygous carriers of a rare phenylalanine hydroxylase (PAH) mutation, p.R155H, subjected to different treatments. PKU caused by mild mutations may be easily underdiagnosed if the diagnosis is based solely on the phenylalanine (Phe) blood concentration. One of the described patients is an example of this diagnostic error. For reducing diagnostic errors, we suggest the use of more elaborate methods in screening practice, in particular mass spectrometric analysis of blood metabolites, the efficiency of which is demonstrated in the present study.

AB - Homozygous siblings with different treatment histories represent an excellent model to study both the phenotypic manifestation of mutations and the efficacy of therapy. We compared phenylketonuria (PKU) manifestations in two different gender siblings who were homozygous carriers of a rare phenylalanine hydroxylase (PAH) mutation, p.R155H, subjected to different treatments. PKU caused by mild mutations may be easily underdiagnosed if the diagnosis is based solely on the phenylalanine (Phe) blood concentration. One of the described patients is an example of this diagnostic error. For reducing diagnostic errors, we suggest the use of more elaborate methods in screening practice, in particular mass spectrometric analysis of blood metabolites, the efficiency of which is demonstrated in the present study.

KW - Blood carnitine

KW - Blood phenylalanine

KW - Hyperphenylalaninemia

KW - Mass spectrometry

KW - Missense mutation

KW - P.R155H

KW - Phenylketonuria

KW - CARNITINE

KW - blood phenylalanine

KW - hyperphenylalaninemia

KW - missense mutation

KW - DEFICIENCY

KW - SPECIMENS

KW - TYROSINE

KW - p.R155H

KW - blood carnitine

KW - mass spectrometry

KW - PHENYLALANINE

KW - phenylketonuria

UR - http://www.scopus.com/inward/record.url?scp=85071630985&partnerID=8YFLogxK

UR - https://www.elibrary.ru/item.asp?id=39248767

UR - http://10.32607/20758251-2019-11-2-

U2 - 10.32607/20758251-2019-11-2-42-46

DO - 10.32607/20758251-2019-11-2-42-46

M3 - Article

C2 - 31413878

AN - SCOPUS:85071630985

VL - 11

SP - 42

EP - 46

JO - Acta Naturae

JF - Acta Naturae

SN - 2075-8251

IS - 2

ER -

ID: 21467914