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. Author manuscript; available in PMC: 2015 Mar 25.
Published in final edited form as: N Engl J Med. 2014 Feb 6;370(6):533–542. doi: 10.1056/NEJMoa1206605

Figure 4. Overview of Clinical Features of PGM1 Deficiency.

Figure 4

Most patients had a bifid uvula (Panel A). Symptoms or findings related to PGM1 deficiency are listed according to frequency (Panel B). Hepatopathy was defined as elevated aminotransferase levels, steatosis, fibrosis, or a combination of these features. Myopathy was defined as a maximal creatine kinase level of more than 300 U per liter. Growth retardation was defined as a height at or below the 5th percentile. Hypoglycemia was defined as a fasting glucose level of less than 2.2 mmol per liter (40 mg per deciliter).