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Table 1 Laboratory tests and diagnostic methods to confirm IOPD

From: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

Diagnostic approaches

Confirmatory findings

CPK

Elevated (not more than 1500–2000 IU/L)

Blood tests, such as ALT, AST, LDH, and urine tests, such as HEX4

Elevated

Chest X-ray

Reduction in lung volume, cardiomegaly, and/or areas of atelectasis

Electrocardiogram

Short PR interval, inverted T-wave, wide/broad QRS complex

Echocardiogram

Hypertrophic cardiomyopathy with or without ventricular outflow tract obstruction; the late stages of the disease are often characterized by dilated cardiomyopathy

MRI (not routinely indicated)

Greater axial muscle involvement; complete involvement of lumbar paravertebral muscles and psoas;

T1-weighted images are sufficient for an adequate assessment

Muscle biopsy (histopathology)

Severe glycogen storage and vacuolar myopathy, positive acid phosphatase, positive PAS staining, and reduced myofibrils

  1. ALT: Alanine transaminase; AST: Aspartate transaminase; CPK: Creatine phosphokinase; HEX4: Glucose tetrasaccharide; IU/L: International units per liter; IOPD: Infantile-onset Pompe disease; LDH: Lactate dehydrogenase; MRI: Magnetic resonance imaging; PAS: Periodic acid Schiff