Table 2 Biochemical findings in patient 1
From: Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report
Test | Plasma | Reference range | Cerebrospinal fluid | Reference range |
|---|---|---|---|---|
Asparagine (μ mol/L) | 55 | 25–91 | 5 | 0–12 |
Glutamine (μ mol/L) | 834 | 316–1020 | 639 | 232–725 |
Glutamic acid (μ mol/L) | 125 | 31–202 | 2 | 0–27 |
Aspartic acid (μ mol/L) | 33 | 2–20 | <1 | 0–3 |
CSF Neurotransmitters | ||||
5-hydoxyindoleacetic acid(5HIAA) (n mol/L) | 281 | Newborn (208–1159) | ||
Homovanillic acid (HVA) (n mol/L) | 410 | Newborn (337–1299) | ||
3-O-methyldopa (3-OMD) (n mol/L) | 79 | Newborn (0–300) | ||
Urine organic acid | Normal | |||