Obesity due to proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency

Obesity due to proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is an ultra-rare, autosomal recessive neuroendocrine disorder caused by biallelic loss-of-function variants in the *PCSK1* gene Impaired maturation of these regulatory peptides disrupts central satiety signaling within the hypothalamic melanocortin pathway, resulting in severe early-onset hyperphagia and rapid, progressive obesity that typically manifests in early childhood following neonatal generalized enteropathy ...

Obesity due to proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is an ultra-rare, autosomal recessive neuroendocrine disorder caused by biallelic loss-of-function variants in the *PCSK1* gene Impaired maturation of these regulatory peptides disrupts central satiety signaling within the hypothalamic melanocortin pathway, resulting in severe early-onset hyperphagia and rapid, progressive obesity that typically manifests in early childhood following neonatal generalized enteropathy ...

Obesity due to proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is an ultra-rare, autosomal recessive neuroendocrine disorder caused by biallelic loss-of-function variants in the *PCSK1* gene Affected pediatric and adult patients frequently present with a complex systemic endocrinopathy, characterized by marked hyperproinsulinemia, central hypoadrenalism, hypogonadotropic hypogonadism, central hypothyroidism, and diabetes insipidus

Obesity due to proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is an ultra-rare, autosomal recessive neuroendocrine disorder caused by biallelic loss-of-function variants in the *PCSK1* gene The gene encodes prohormone convertase 1/3 (PC1/3), an endoprotease crucial for processing peptide hormone and neuropeptide precursors within the neuroendocrine system and central appetite-regulating pathways, including proopiomelanocortin (POMC) and proinsulin

The gene encodes prohormone convertase 1/3 (PC1/3), an endoprotease crucial for processing peptide hormone and neuropeptide precursors within the neuroendocrine system and central appetite-regulating pathways, including proopiomelanocortin (POMC) and proinsulin

The gene encodes prohormone convertase 1/3 (PC1/3), an endoprotease crucial for processing peptide hormone and neuropeptide precursors within the neuroendocrine system and central appetite-regulating pathways, including proopiomelanocortin (POMC) and proinsulin Affected pediatric and adult patients frequently present with a complex systemic endocrinopathy, characterized by marked hyperproinsulinemia, central hypoadrenalism, hypogonadotropic hypogonadism, central hypothyroidism, and diabetes insi...

Impaired maturation of these regulatory peptides disrupts central satiety signaling within the hypothalamic melanocortin pathway, resulting in severe early-onset hyperphagia and rapid, progressive obesity that typically manifests in early childhood following neonatal generalized enteropathy and failure to thrive

Impaired maturation of these regulatory peptides disrupts central satiety signaling within the hypothalamic melanocortin pathway, resulting in severe early-onset hyperphagia and rapid, progressive obesity that typically manifests in early childhood following neonatal generalized enteropathy and failure to thrive

Affected pediatric and adult patients frequently present with a complex systemic endocrinopathy, characterized by marked hyperproinsulinemia, central hypoadrenalism, hypogonadotropic hypogonadism, central hypothyroidism, and diabetes insipidus