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Table 3 Biochemical Findings in ASNSD

From: Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

 

Plasma

Cerebrospinal fluid (CSF)

 
 

Asparagine μmol/L

Glutamine μmol /L

Aspartate μmol /L

Glutamate μmol /L

Asparagine μmol /L

Glutamine μmol /L

Aspartate μmol /L

Glutamate μmol /L

Comment

A. Present Report (2015)

 Patient 1

55 (25–91)

834 (316–1020)

33 (2–20)

125 (31–202)

5 (0–12)

639 (232–725)

<1 (0–3)

2 (0–27)

Slightly Elevated Plasma Aspartate

 Patient 2

Normal

Normal

Normal

Normal

N/A

N/A

N/A

N/A

 

B. Majid Alfadhel et. al (2014) [2]

 Patient 1

10 (33–68.4)

339 (254–823)

N/A

N/A

Not detected (1.1–6.9)

922 (356–680)

N/A

N/A

Low Plasma and CSF Asparagine

 Patient 2

6 (33–68.4)

328 (254–823)

N/A

N/A

1 (1.1–6.9)

574 (356–680)

N/A

N/A

Low Plasma and CSF Asparagine

C. Ruzzo el. al (2013) [1]

 1

57 (23–112)

1250 (254–823)

18 (1–24)

N/A

N/A

N/A

N/A

N/A

High Plasma Glutamate

 2

49 (23–112)

1149 (254–823)

2 (1–24)

N/A

N/A

N/A

N/A

N/A

High Plasma Glutamate

 3

N/A

N/A

7 (17–21)

N/A

N/A

N/A

N/A

N/A

Low Plasma Aspartate

 4

12 (16–21)

N/A

N/A

N/A

N/A

N/A

N/A

N/A

Low Plasma Asparagine

 5

N/A

N/A

12 (0–20)

N/A

N/A

N/A

N/A

N/A

 

 6

11 (31–56)

439 (474–736)

7 (4–18)

N/A

N/A

N/A

N/A

N/A

Low Plasma Asparagine

 7

55 (31–56)

668 (474–736)

9 (4–18)

N/A

N/A

N/A

N/A

N/A

 

Ben-Salem et. al (2015)

Normal

Normal

Normal

Normal

N/A

N/A

N/A

N/A

 
  1. Legend: N/A Not Available
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BMC Neurology

ISSN: 1471-2377

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