Homocysteine and methylmalonic acid in Phenylketonuria patients

Abstract: Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients. Comparisons were made between pre- and post-treatment values (n= 3); on treatment values, between periods with high and normal/low phenylalanine (Phe) levels (n= 20); and in women before, during and after pregnancy (n= 3). THcy levels decreased after treating PKU with metabolic formula (p=0.014). Except for a pregnant woman before pregnancy, none of the patients had tHcy values above the normal range. In fact, tHcy was < 5 μmol/L in 34% of the samples. We observed a decrease in Phe, tHcy, and tyrosine levels during pregnancy. MMA levels did not differ significantly, with values remaining in the normal range. These data indicate that there was no B12 deficiency in patients who adhere to the diet. In conclusion, in PKU patients treated with metabolic formula, tHcy is frequently not elevated, remaining even in the lower normal range in some patients. Thus, clinical follow-up and adherence to dietary treatment are crucial to prevent B12 deficiency

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
Online-Ressource
Language
Englisch
Notes
Genetics and molecular biology. - 46, 3 (suppl 1) (2023) , e20230103, ISSN: 1678-4685

Event
Veröffentlichung
(where)
Freiburg
(who)
Universität
(when)
2024
Creator
Hoss, Giovana Regina Weber
Sperb-Ludwig, Fernanda
Tonon, Tássia
Poloni, Soraia
Behringer, Sidney
Blom, Henk J.
Maillot, François
Schwartz, Ida Vanessa

DOI
10.1590/1678-4685-gmb-2023-0103
URN
urn:nbn:de:bsz:25-freidok-2488750
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
14.08.2025, 10:54 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Associated

Time of origin

  • 2024

Other Objects (12)