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PROPROTEIN CONVERTASE 1/3 DEFICIENCY

PROPROTEIN CONVERTASE 1/3 DEFICIENCY
OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES
600955
OMIM = Online Mendelian Inheritance of Men
71528
Neuroendocrine convertase 1
---
5q15
E66.8
very rare
autosomal recessive
mutation in the PC1 gene
Laboratory findings    Cortisol dec (serum)
    D-Glucose dec (plasma)
    Insulin dec (plasma)
    Progastrin inc (plasma)
    Proglucagon inc (plasma)
    Proinsulin inc (plasma)
Symptoms    amenorrhea
    diarrhea
    hyperphagia
    hypoglycemia
    hypogonadism
    malabsorption
    obesity
    onset, neonatal