Clinical Spectrum of Propionic Acidaemia
Objectives. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with propionic acidaemia (PA). Methods. The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively. Results. Twenty-six patients with PA had 133 admissions...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Journal of Nutrition and Metabolism |
| Online Access: | http://dx.doi.org/10.1155/2013/975964 |
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| author | Muhammad Rafique |
| author_facet | Muhammad Rafique |
| author_sort | Muhammad Rafique |
| collection | DOAJ |
| description | Objectives. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with propionic acidaemia (PA). Methods. The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively. Results. Twenty-six patients with PA had 133 admissions. The majority (85%) of the patients exhibited clinical manifestations in the 1st week of life. Regarding clinical features, lethargy, fever, poor feeding, vomiting, dehydration, muscular hypotonia, respiratory symptoms, encephalopathy, disturbance of tone and reflexes, and malnutrition were observed in 51–92% admissions. Metabolic crises, respiratory diseases, hyperammonaemia, metabolic acidosis, hypoalbuminaemia, and hypocalcaemia were observed in 30–96% admissions. Pancytopenia, ketonuria, hypoproteinemia, hypoglycaemia, and mildly disturbed liver enzymes were found in 12–41% admissions. Generalised brain oedema was detected in 17% and cerebral atrophy in 25% admissions. Gender-wise odd ratio analysis showed value of 1.9 for lethargy, 1.99 for respiratory diseases, 0.55 for anaemia, and 1.82 for hypocalcaemia. Conclusion. Propionic acidaemia usually presents with wide spectrum of clinical features and disturbances of laboratory parameters in early neonatal age. It is associated with significant complications which deteriorate the patients’ quality of life. Perhaps with early diagnosis of the disease and in time intervention, these may be preventable. |
| format | Article |
| id | doaj-art-0af5642942ac476b8db7fddca2da56ca |
| institution | Kabale University |
| issn | 2090-0724 2090-0732 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Nutrition and Metabolism |
| spelling | doaj-art-0af5642942ac476b8db7fddca2da56ca2025-08-20T03:54:28ZengWileyJournal of Nutrition and Metabolism2090-07242090-07322013-01-01201310.1155/2013/975964975964Clinical Spectrum of Propionic AcidaemiaMuhammad Rafique0Department of Child Health, College of Medicine, King Khalid University, Abha 61321, Saudi ArabiaObjectives. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with propionic acidaemia (PA). Methods. The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively. Results. Twenty-six patients with PA had 133 admissions. The majority (85%) of the patients exhibited clinical manifestations in the 1st week of life. Regarding clinical features, lethargy, fever, poor feeding, vomiting, dehydration, muscular hypotonia, respiratory symptoms, encephalopathy, disturbance of tone and reflexes, and malnutrition were observed in 51–92% admissions. Metabolic crises, respiratory diseases, hyperammonaemia, metabolic acidosis, hypoalbuminaemia, and hypocalcaemia were observed in 30–96% admissions. Pancytopenia, ketonuria, hypoproteinemia, hypoglycaemia, and mildly disturbed liver enzymes were found in 12–41% admissions. Generalised brain oedema was detected in 17% and cerebral atrophy in 25% admissions. Gender-wise odd ratio analysis showed value of 1.9 for lethargy, 1.99 for respiratory diseases, 0.55 for anaemia, and 1.82 for hypocalcaemia. Conclusion. Propionic acidaemia usually presents with wide spectrum of clinical features and disturbances of laboratory parameters in early neonatal age. It is associated with significant complications which deteriorate the patients’ quality of life. Perhaps with early diagnosis of the disease and in time intervention, these may be preventable.http://dx.doi.org/10.1155/2013/975964 |
| spellingShingle | Muhammad Rafique Clinical Spectrum of Propionic Acidaemia Journal of Nutrition and Metabolism |
| title | Clinical Spectrum of Propionic Acidaemia |
| title_full | Clinical Spectrum of Propionic Acidaemia |
| title_fullStr | Clinical Spectrum of Propionic Acidaemia |
| title_full_unstemmed | Clinical Spectrum of Propionic Acidaemia |
| title_short | Clinical Spectrum of Propionic Acidaemia |
| title_sort | clinical spectrum of propionic acidaemia |
| url | http://dx.doi.org/10.1155/2013/975964 |
| work_keys_str_mv | AT muhammadrafique clinicalspectrumofpropionicacidaemia |