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-trea...
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Sociedade Brasileira de Genética
2024-04-01
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| Series: | Genetics and Molecular Biology |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000600131&tlng=en |
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| author | Giovana Regina Weber Hoss Fernanda Sperb-Ludwig Tássia Tonon Soraia Poloni Sidney Behringer Henk J. Blom François Maillot Ida Vanessa Doederlein Schwartz |
| author_facet | Giovana Regina Weber Hoss Fernanda Sperb-Ludwig Tássia Tonon Soraia Poloni Sidney Behringer Henk J. Blom François Maillot Ida Vanessa Doederlein Schwartz |
| author_sort | Giovana Regina Weber Hoss |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T11:51:15Z |
| format | Article |
| id | doaj.art-78b8aa0bac9f4db58469ead2acc98901 |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-04-24T11:51:15Z |
| publishDate | 2024-04-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-78b8aa0bac9f4db58469ead2acc989012024-04-09T07:43:56ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852024-04-01463 suppl 110.1590/1678-4685-gmb-2023-0103Homocysteine and methylmalonic acid in Phenylketonuria patientsGiovana Regina Weber Hosshttps://orcid.org/0000-0003-0580-879XFernanda Sperb-Ludwighttps://orcid.org/0000-0002-2460-7064Tássia Tononhttps://orcid.org/0000-0001-8504-7526Soraia Polonihttps://orcid.org/0000-0003-4506-6487Sidney BehringerHenk J. Blomhttps://orcid.org/0000-0001-5202-9241François Maillothttps://orcid.org/0000-0002-1979-5769Ida Vanessa Doederlein Schwartzhttps://orcid.org/0000-0002-7933-6687Abstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000600131&tlng=enPhenylketonuriaHomocysteineMethylmalonic AcidVitamin B12 |
| spellingShingle | Giovana Regina Weber Hoss Fernanda Sperb-Ludwig Tássia Tonon Soraia Poloni Sidney Behringer Henk J. Blom François Maillot Ida Vanessa Doederlein Schwartz Homocysteine and methylmalonic acid in Phenylketonuria patients Genetics and Molecular Biology Phenylketonuria Homocysteine Methylmalonic Acid Vitamin B12 |
| title | Homocysteine and methylmalonic acid in Phenylketonuria patients |
| title_full | Homocysteine and methylmalonic acid in Phenylketonuria patients |
| title_fullStr | Homocysteine and methylmalonic acid in Phenylketonuria patients |
| title_full_unstemmed | Homocysteine and methylmalonic acid in Phenylketonuria patients |
| title_short | Homocysteine and methylmalonic acid in Phenylketonuria patients |
| title_sort | homocysteine and methylmalonic acid in phenylketonuria patients |
| topic | Phenylketonuria Homocysteine Methylmalonic Acid Vitamin B12 |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000600131&tlng=en |
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