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Obesity due to prohormone convertase I deficiency
Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.
- PCI deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E66.8
- OMIM: 600955
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
It has been described in two patients: a 43-year-old woman and a female infant.
Abnormal intestinal function was also reported in both patients: the infant presented with severe refractory neonatal diarrhoea and small-intestinal absorptive dysfunction was detected in the adult patient. Hypogonadotropic hypogonadism and primary amenorrhea were also reported in the 43-year-old woman.
The disorder is caused by mutations in the gene encoding prohormone convertase-1 (PCSK1, 5q15-q21), an enzyme involved in the processing of POMC, and numerous prohormones including proinsulin.