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Summary
GLUCAGON RECEPTOR DEFECT (GCGR)
138033
OMIM = Online Medalian Inheritance of Men
17q25.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
new disease
very rare (1 patient)


symptoms
anorexia
onset, infancy
onset, neonatal
vomiting
laboratory finding
Cholesterol 279.00 mg/dlserum
Arginine +€mol/lblood
Glutamine500.001100.00 +€mol/lplasma
Arginine150.00350.00 +€mol/lplasma
L-Lysine292.00728.00 +€mol/lplasma
Ornithine110.00238.00 +€mol/lplasma
L-Threonine184.00558.00 -Ámol/lplasma
L-Serine113.00291.00 -Ámol/lplasma
Literature
Frisso G,et al.A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterizationMol Genet Metab1214329-3352017