AI Article Synopsis
- - Glutaric aciduria type II (GA II) is a metabolic disorder that affects how the body breaks down proteins and fats, leading to energy production issues.
- - Diagnosis involves screening with tandem mass spectrometry and several urine tests, especially when ketosis is present.
- - Management requires an early diagnosis, adherence to a specialized low-protein diet, and regular medical follow-ups, as illustrated by a case involving a 4.5-month-old male infant.
Article Abstract
Glutaric aciduria type II (GA II) also known as multiple acyl-CoA dehydrogenase deficiency is an inborn metabolic disorder belonging to the family of organic acidurias. It is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. Tandem mass spectrometry (TMS) acts as a screening tool, while the diagnosis of GA-II with ketosis is confirmed by a combination of tests like organic acids, quantitative random urine, and a full urine panel. Early diagnosis, compliance to specialized diet, affordability, and regular follow-ups are required to tackle this potentially life-threatening condition. Herein, we report a case of glutaric aciduria type-II with ketosis in a 4.5 months old male infant who was managed with a low-protein diet, which was free of tryptophan, lysine, and other specific dietary supplements.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110299 | PMC |
| http://dx.doi.org/10.7759/cureus.14407 | DOI Listing |
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