Skip to main content
. Author manuscript; available in PMC: 2019 Mar 16.
Published in final edited form as: Circ Res. 2018 Jan 17;122(6):846–854. doi: 10.1161/CIRCRESAHA.117.311949

Table 1.

Clinical Signs and Symptoms, and Genetic and Biochemical Hallmarks of Patients with a CYB561 Defect

A. Clinical signs and symptoms American patients (n=2) Dutch patients (n=2)
Severe orthostatic hypotension + +
Episodes of hypoglycemia in childhood + ND
Disturbed renal function (mild-severe) ND +
Mild anemia ND +
Early death + +
B. Genetic characteristics
Mutation cDNA: NM_001915.3(CYB561) c.131G>A c.262G>A
Mutation gDNA: Chr17(GRCh37) g.61514778C>T g.61513454C>T
Protein change p.Trp44* p.Gly88Arg
C. Biochemical hallmarks
Very low norepinephrine in urine and plasma
Very low normetanephrine in urine and plasma
Very low MHPG in urine
Very low CSF MHPG with normal CSF HVA and 5-HIAA
Normal dopamine and metabolites in urine and plasma
Normal dopamine beta hydroxylase enzymatic activity in plasma

CSF indicates cerebrospinal fluid; 5-HIAA, hydroxyindolacetic acid; HVA, homovanillic acid; MHPG, 3-methoxy-4-hydroxyphenylglycol; ND not documented.