24 April 2024
: Case report 
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study
Challenging differential diagnosis, Management of emergency care, Rare disease, Congenital defects / diseases
Monika Duś-Żuchowska
1ABCDEF*, Hanna Nowak 1BCDEF, Łukasz Kałużny 2ABEF, Dariusz Rokicki 3ABCFG, Elżbieta Ciara 4BCDFG, Dorota Piekutowska-Abramczuk 4BCDFG, Jarosław Walkowiak 2ADEFG
DOI: 10.12659/AJCR.943118
Am J Case Rep 2024; 25:e943118
Table 1. Review of the results of selected laboratory parameters during hypoglycemic episodes in the patient (different units arise from obtaining results in different laboratories).
| Hypoglycemic episode | ||||
|---|---|---|---|---|
| First | Second | Third | Fourth | |
| ALT | 3474 U/l [RI 9–25] | 286 IU/l [RI 8–39] | 38 IU/l [RI 8–39] | 28 IU/l [RI 8–39] |
| AST | 3369 U/l [RI 21–44] | 214 IU/l [RI 20–48] | 54 IU/l [RI 20–48] | 53 IU/l [RI 20–48] |
| Glucose [mg/dl] | 3 [RI: 60–99] | 17 [RI: 60–101] | 34 [RI: 60–101] | 30 [RI: 60–101] |
| Ammonia [µg/dl] | 90 [RI: <82] | 93 [RI: <82] | 79 [RI: <82] | 113 [RI: <82] |
| Lactates [mmol/l] | 2 [RI<1,9] | 6.81 [RI: 0.5–2.2] | 2.9 [RI: 0.5–2.2] | 2.2 [RI: 0.5–2.2] |
| pH | 7.33 [RI: 7.35–7.45] | 7.24 [RI: 7.35–7.45] | 7.32 [RI: 7.35–7.45] | 7.46 [RI: 7.35–7.45] |
| pCO [mmHg] | 40.3 [RI: 35–45] | 25.9 [RI: 35–45] | 31.2 [RI: 35–45] | 36.7 [RI: 35–45] |
| HCO [mmol/l] | 20.60 [RI: 21–26] | 10.9 [RI: 21–26] | 15.8 [RI: 21–26] | 25.6 [RI: 21–26] |
| ALT – alanine transaminase; AST – aspartate transaminase; RI – reference interval; pCO – partial pressure of carbon dioxide; HCO3 – bicarbonate. | ||||