Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study
Abstract We read with interest the recent publication on methylmalonic aciduria (MMA) and commend the authors for their outstanding contribution. This letter aims to further build upon their work by emphasizing additional aspects to enhance clinical relevance and diagnostic precision. We highlight t...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-02-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03585-8 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1823861670364053504 |
|---|---|
| author | Hiba Abid Areeba Abid Sarah Sohail Sara Jawaid |
| author_facet | Hiba Abid Areeba Abid Sarah Sohail Sara Jawaid |
| author_sort | Hiba Abid |
| collection | DOAJ |
| description | Abstract We read with interest the recent publication on methylmalonic aciduria (MMA) and commend the authors for their outstanding contribution. This letter aims to further build upon their work by emphasizing additional aspects to enhance clinical relevance and diagnostic precision. We highlight the variability in serum MMA levels due to dietary intake, renal function, and external factors, advocating for the integration of supplementary diagnostic tools, such as the 1–13 C-propionate oxidation breath test, alongside biomarkers like fibroblast growth factor 21, growth differentiation factor 15, and lipocalin-2, to improve diagnostic accuracy. Additionally, we discuss the limitations of first-tier newborn screening tests due to high false positive rates and recommend second-tier testing using liquid chromatography coupled with tandem mass spectrometry to increase specificity and reduce false positives. Moreover, we address the underestimation of liver dysfunction in MMA patients, noting the need for longitudinal follow-up to capture the progression of liver function abnormalities. This critique is intended to constructively expand the authors’ findings and underscore the importance of a comprehensive diagnostic and management approach to MMA, ultimately improving patient outcomes. |
| format | Article |
| id | doaj-art-b60fb44ac1e44bf19130337e09b4c6e5 |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-b60fb44ac1e44bf19130337e09b4c6e52025-02-09T12:54:08ZengBMCOrphanet Journal of Rare Diseases1750-11722025-02-012011210.1186/s13023-025-03585-8Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective studyHiba Abid0Areeba Abid1Sarah Sohail2Sara Jawaid3Jinnah Sindh Medical University, Karachi CityJinnah Sindh Medical University, Karachi CityJinnah Sindh Medical University, Karachi CityJinnah Sindh Medical University, Karachi CityAbstract We read with interest the recent publication on methylmalonic aciduria (MMA) and commend the authors for their outstanding contribution. This letter aims to further build upon their work by emphasizing additional aspects to enhance clinical relevance and diagnostic precision. We highlight the variability in serum MMA levels due to dietary intake, renal function, and external factors, advocating for the integration of supplementary diagnostic tools, such as the 1–13 C-propionate oxidation breath test, alongside biomarkers like fibroblast growth factor 21, growth differentiation factor 15, and lipocalin-2, to improve diagnostic accuracy. Additionally, we discuss the limitations of first-tier newborn screening tests due to high false positive rates and recommend second-tier testing using liquid chromatography coupled with tandem mass spectrometry to increase specificity and reduce false positives. Moreover, we address the underestimation of liver dysfunction in MMA patients, noting the need for longitudinal follow-up to capture the progression of liver function abnormalities. This critique is intended to constructively expand the authors’ findings and underscore the importance of a comprehensive diagnostic and management approach to MMA, ultimately improving patient outcomes.https://doi.org/10.1186/s13023-025-03585-8Methylmalonic aciduriaTreatmentLiver disease |
| spellingShingle | Hiba Abid Areeba Abid Sarah Sohail Sara Jawaid Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study Orphanet Journal of Rare Diseases Methylmalonic aciduria Treatment Liver disease |
| title | Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study |
| title_full | Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study |
| title_fullStr | Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study |
| title_full_unstemmed | Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study |
| title_short | Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study |
| title_sort | clinical and genetic analysis of methylmalonic aciduria in 60 patients from southern china a single center retrospective study |
| topic | Methylmalonic aciduria Treatment Liver disease |
| url | https://doi.org/10.1186/s13023-025-03585-8 |
| work_keys_str_mv | AT hibaabid clinicalandgeneticanalysisofmethylmalonicaciduriain60patientsfromsouthernchinaasinglecenterretrospectivestudy AT areebaabid clinicalandgeneticanalysisofmethylmalonicaciduriain60patientsfromsouthernchinaasinglecenterretrospectivestudy AT sarahsohail clinicalandgeneticanalysisofmethylmalonicaciduriain60patientsfromsouthernchinaasinglecenterretrospectivestudy AT sarajawaid clinicalandgeneticanalysisofmethylmalonicaciduriain60patientsfromsouthernchinaasinglecenterretrospectivestudy |