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Table 4 Symptoms and laboratory findings suggestive of metabolic disease other than CF

From: Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report

Symptoms

Laboratory findings

intense regurgitation and vomiting

↑ ammonia

umbilical hernia

↑ lactate

postural asymmetry

↓alpha-1-antitrypsine

generalized diminished muscle tone

metabolic acidosis

diminished tendon reflexes

GC/MS irregularities

 

serum amino acids irregularities