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Summary
PROPROTEIN CONVERTASE 1/3 DEFICIENCY
OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES
600955
OMIM = Online Medalian Inheritance of Men
71528
5q15
very rare
autosomal recessive
mutation in the PC1 gene
symptoms
amenorrhea
diarrhea
hyperphagia
hypoglycemia
hypogonadism
malabsorption
obesity
onset, neonatal
laboratory finding
Insulin decreased, postprandialplasma
Proinsulin increased, postprandialplasma
D-Glucose decreasedserum
Proglucagon increased postprandialplasma
Cortisol decreasedserum
Progastrin increased postprandialplasma
Literature