Journal of Developmental Medicine(Electronic Version)  2025, Vol. 13 Issue (5): 391-394 DOI: |
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| Research progress of methylmalonic acidemia presenting as diabetic ketoacidosis |
| Shi Chunhua, Chen Dehong, Li Yulin, et al
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(Department of Pediatric, Jinan Maternity and Child Care Hospital, Shandong, Jinan 250000, China)
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Abstract 【Abstract】Methylmalonic acidemia(MMA), also known as methylmalonic aciduria, is the most common
disease among autosomal recessive organic acid metabolism disorders in China. The common clinical
manifestations of MMA include difficulties in eating, repeated vomiting, generalized hypotonia, movement
disorders, drowsiness, neurological abnormalities, hypoglycemia, acidosis, etc. However, hyperglycemia
is a relatively rare manifestation , and cases presenting as diabetic ketoacidosis are even rarer. In clinical
practice, such cases are prone to misdiagnosis and delayed treatment. Therefore, detailed description of MMA
presenting as diabetic ketoacidosis can help in differential diagnosis, guide treatment plans, and prevent
misdiagnosis and delayed treatment.
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Received: 24 September 2024
Published: 01 October 2025
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