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Table 1 Clinical data of 4 Chinese patients affected with SSADH deficiency

From: Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency

Patients

1

2

3

4

Gender

F

M

M

F

Age of diagnosis

3 y

86 d

5 y

8 m

Cesarean delivery

Y

Y

N

N

Family history

N

N

N

N

Consanguineous

N

N

Y

N

Convulsions

Y

Y

N

N

Developmental delay

Y

Y

Y

Y

Hypotonia

N

N

N

Y

Hyporeflexia

N

N

N

Y

Sleep disturbances

N

Y

N

Y

Abnormal EEG

Y

Y

UN

N

Abnormal MRI

Y

Y

UN

Y

Metabolic acidosis

N

Y

N

N

4-HB urine

Y

Y

Y

Y

  1. F female, M male, y years, d days, m months, N no, Y yes, UN unknown