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Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut - PubMed
Source: pubmed.ncbi.nlm.nih.gov
Article summary:
1. This article provides an analysis of data from 28 cblA and 95 mut patients in order to delineate the clinical spectrum of isolated methylmalonic acidurias.
2. Metabolic crisis is the predominant symptom leading to diagnosis in both groups, and biochemical disturbances during the first crisis were similar in both groups, as well as the age at diagnosis.
3. The article found that cblA patients respond to hydroxocobalamin treatment, subsequently show significantly lower levels of MMA and a milder course than mut patients.
Article analysis:
The article is generally reliable and trustworthy, providing a comprehensive overview of the clinical spectrum of isolated methylmalonic acidurias based on data from 28 cblA and 95 mut patients. The authors have provided detailed information on the symptoms leading to diagnosis, biochemical disturbances during the first crisis, age at diagnosis, body height and weight Z scores at birth and last visit, glomerular filtration rate, neurological complications, MMA levels in urine and plasma, response to cobalamin treatment, dietary treatment with amino acid supplements, mortality rates for each group etc., which makes it a valuable source of information for medical professionals.
The article does not appear to be biased or one-sided; it presents both sides equally by providing detailed information on both cblA and mut patients. It also does not contain any promotional content or partiality towards either group. Furthermore, possible risks are noted throughout the article where relevant (e.g., chronic renal failure).
The only potential issue with this article is that it does not explore any counterarguments or missing points of consideration; however this is understandable given its focus on presenting data rather than engaging in debate or discussion about it.