GLUCAGON RECEPTOR DEFECT (GCGR)

Question 1

What is  GLUCAGON RECEPTOR DEFECT (GCGR)?

Accepted Answer

new disease

very rare (1 patient)

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 138033

Question 3

Which enzymes are involved?

Accepted Answer

Glucagon receptor

Disease	GLUCAGON RECEPTOR DEFECT (GCGR)
OMIM	138033 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Glucagon receptor
Gene locus	17q25.3 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Glucagon receptor
ICD
Summary	new disease very rare (1 patient)
Laboratory findings	Arginine inc (blood) Arginine inc (plasma) Cholesterol inc (serum) Glutamine inc (plasma) L-Lysine inc (plasma) L-Serine normal/inc (plasma) L-Threonine normal/inc (plasma) Ornithine normal/inc (plasma)
Symptoms	anorexia onset, infancy onset, neonatal vomiting