Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder
A 17-year-old patient with GSD type 1a (von Gierke disease) was hospitalized with an extremely elevated serum lactate following an intercurrent infection and interruption of his frequent intake of carbohydrates. The patient developed shock, oliguric renal failure, and cardiorespiratory failure requi...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2016/4362743 |
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| author | Yonatan Oster Isaiah D. Wexler Samuel N. Heyman Elchanan Fried |
| author_facet | Yonatan Oster Isaiah D. Wexler Samuel N. Heyman Elchanan Fried |
| author_sort | Yonatan Oster |
| collection | DOAJ |
| description | A 17-year-old patient with GSD type 1a (von Gierke disease) was hospitalized with an extremely elevated serum lactate following an intercurrent infection and interruption of his frequent intake of carbohydrates. The patient developed shock, oliguric renal failure, and cardiorespiratory failure requiring mechanical ventilation and inotropes. At the peak of metabolic decompensation and clinical instability, serum lactate reached a level of 47.6 mmol/L which was accompanied by a severe anion gap metabolic acidosis with a pH of 6.8 and bicarbonate of 4 meq/L. The patient was stabilized with massive infusions of sodium bicarbonate (45 meq/h) and glucose and recovered without the need for dialysis. This patient illustrates pathophysiologic mechanisms involved in the development of extreme mixed type A and type B lactic acidemia, reflecting altered metabolic pathways in GSD type 1, combined with tissue hypoperfusion. The rationale for the specific interventions in this case is outlined. |
| format | Article |
| id | doaj-art-39f979637b6945598774d76cd7e23e8d |
| institution | OA Journals |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-39f979637b6945598774d76cd7e23e8d2025-08-20T02:24:13ZengWileyCase Reports in Medicine1687-96271687-96352016-01-01201610.1155/2016/43627434362743Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate DisorderYonatan Oster0Isaiah D. Wexler1Samuel N. Heyman2Elchanan Fried3Department of Medicine, Hadassah Hebrew University Hospital, Mt. Scopus, Jerusalem, IsraelDepartment of Pediatrics, Hadassah Hebrew University Hospital, Mt. Scopus, Jerusalem, IsraelDepartment of Medicine, Hadassah Hebrew University Hospital, Mt. Scopus, Jerusalem, IsraelDepartment of Medicine, Hadassah Hebrew University Hospital, Mt. Scopus, Jerusalem, IsraelA 17-year-old patient with GSD type 1a (von Gierke disease) was hospitalized with an extremely elevated serum lactate following an intercurrent infection and interruption of his frequent intake of carbohydrates. The patient developed shock, oliguric renal failure, and cardiorespiratory failure requiring mechanical ventilation and inotropes. At the peak of metabolic decompensation and clinical instability, serum lactate reached a level of 47.6 mmol/L which was accompanied by a severe anion gap metabolic acidosis with a pH of 6.8 and bicarbonate of 4 meq/L. The patient was stabilized with massive infusions of sodium bicarbonate (45 meq/h) and glucose and recovered without the need for dialysis. This patient illustrates pathophysiologic mechanisms involved in the development of extreme mixed type A and type B lactic acidemia, reflecting altered metabolic pathways in GSD type 1, combined with tissue hypoperfusion. The rationale for the specific interventions in this case is outlined.http://dx.doi.org/10.1155/2016/4362743 |
| spellingShingle | Yonatan Oster Isaiah D. Wexler Samuel N. Heyman Elchanan Fried Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder Case Reports in Medicine |
| title | Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder |
| title_full | Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder |
| title_fullStr | Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder |
| title_full_unstemmed | Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder |
| title_short | Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder |
| title_sort | recoverable record high lactic acidosis in a patient with glycogen storage disease type 1 a mixed type a and type b lactate disorder |
| url | http://dx.doi.org/10.1155/2016/4362743 |
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