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Table 1 Clinical characteristics of HI/HA subjects

From: Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome

Subject*

Age (y)

Sex

GLUD-1 mutation

Treatment

Self-reported neurodevelopmental history

1

32

F

Ser445Leu§

Pancreatectomy, age 2y10mo

Normal neurodevelopment

2

16

M

His262Tyr

DZ 9.5 mg/kg/day

ADHD

3*

27

F

Ser448Pro

DZ 2.5 mg/kg/day

Language delay; learning/processing disorder; memory issues

4*

24

F

Ser448Pro

DZ 1 mg/kg/day

Learning/processing disorder

5*

56

M

Ser448Pro

None

Memory issues

6

18

M

Gly446Val

DZ 4 mg/kg/day

Normal neurodevelopment

7

24

F

Arg221Cys§

DZ 1 mg/kg/day

Gross motor and language delay; learning disorder

8

13

F

Ala447Thr

DZ 5 mg/kg/day

Learning disorder; memory issues

9

38

M

Ala447Thr

None

Developmental delay

10

28

M

||

Pancreatectomy, age 2–3y

Language delay; ADHD; memory issues

11

28

F

||

DZ 5 mg/kg/day

Language delay; learning disorder; ADHD

12

13

F

Ala447Thr

DZ 7 mg/kg/day

Learning disorder

  1. ADHD attention deficit hyperactivity disorder, DZ diazoxide, F female, HI/HA hyperinsulinism hyperammonemia syndrome, M male, mo month, y year
  2. *Subject 5 is the father of subjects 3 and 4
  3. Subject 9 is the father of subject 8 and paternal uncle of subject 12
  4. GLUD-1 sequence information is based on GenBank reference sequence NM_005271.3
  5. §Mosaic
  6. ||Genetic testing not performed