| Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access |
| Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc |
| Journal website http://www.journalmc.org |
Case Report
Volume 2, Number 2, April 2011, pages 67-70
Arginase Deficiency Presenting as Intractable Hiccups With Severe Hyperammonemia at One Month of Age
Tables
| Amino acid | Plasma (µmol/L) | Urine (µmol/L) | ||
|---|---|---|---|---|
| Pre†/Post‡ | Normal range | Pre†/Post‡ | Normal range | |
| ND: not detectable, †: pretreatment, ‡: posttreatment; two months after treatment of peritoneal dialysis and the start of diet treatment with a protein-free formula. | ||||
| Glutamate | 95/134 | 23 - 45 | 460/5 | 11 - 49 |
| Glutamine | 805/488 | 478 - 659 | 2449/82 | 170 - 910 |
| Proline | 98/84 | 166 - 244 | 459/11 | < 22 |
| Alanine | 175/528 | 322 - 480 | 1539/102 | 56 - 530 |
| Citruline | 51/29 | 28 - 41 | 879/8 | < 15 |
| Cystine | 20/31 | 30 - 49 | 1028/11 | 33 - 88 |
| Isoleucine | 41/175 | 63 - 88 | 169/10 | 14 - 48 |
| Leucine | 80/230 | 107 - 144 | 209/64 | 24 - 78 |
| Ornitine | 44/10 | 47 - 73 | 1054/ND | 7 - 21 |
| Lysin | 186/458 | 143 - 208 | 5918/69 | 11 - 380 |
| Arginine | 1131/37 | 65 - 98 | 6964/6 | 33 - 99 |
| Age of onset (after birth) | Plasma ammonia (µmol/L) | Plasma arginine (µmol/L) | Plasma glutamine (µmol/L) | CSF glutamine (µmol/L) | Outcome | |
|---|---|---|---|---|---|---|
| CSF, cerebrospinal fluid; NA, not available; CP, cerebral palsy. | ||||||
| Picker et al [3] | 30 h | 114 | 881 | 909 | 9587 | Death |
| Jorda et al [4] | 5 d | 338 | 170 | NA | NA | Death |
| Schiff et al [5] | 3 w | 250 | 680 | NA | NA | Severe CP |
| Braga et al [6] | 2 m | 142 | 1756 | NA | NA | Normal |
| Present case | 44 d | 1970 | 1131 | 805 | NA | Moderate motor delay |