Pregnancies in glycogen storage disease type Ia

Martens, Daniëlle H. J.; Rake, Jan Peter; Schwarz, Martin; Ullrich, Kurt; Weinstein, David A.; Merkel, Martin; Sauer, Pieter; Smit, Gerrit

doi:10.1016/j.ajog.2007.11.050

Cited by 37 publications

(32 citation statements)

References 22 publications

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“…Successful pregnancies have been documented in women with GSD types Ia and Ib. 47,48,105,106,108 Ideally, it is prudent to plan the pregnancy ahead of time so that metabolic parameters may be monitored and normalized in preparation for pregnancy. A prepregnancy consultation should be conducted during which adherence to a safe diet routine to avoid low BG, accompanied by frequent BG monitoring, should be emphasized.…”

Section: Pregnancymentioning

confidence: 99%

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Kishnani

Austin

Abdenur

et al. 2014

Genetics in Medicine

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Section: Pregnancymentioning

confidence: 99%

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Kishnani

Austin

Abdenur

et al. 2014

Genetics in Medicine

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361

554

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“…Life expectancy in GSD I is still undefined, but it has dramatically improved, compared to 30 years ago, with more and more patients surviving to adulthood (Martens et al 2008). As a consequence, patients have to deal with new issues connected with self autonomy, integration into society, traveling, competitive working, and having a family of their own.…”

Section: Introductionmentioning

confidence: 99%

Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study

et al. 2013

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Background: Glycogen storage disease type I (GSD I) is a chronic metabolic disease that requires a lifelong strict dietetic treatment to avoid hypoglycemia and can lead to severe complications during adult age. Impaired quality of life (QoL) has been reported in affected children, but this aspect has not been previously investigated in adults.Objective: To assess QoL in adult patients with GSD I. Patients and Methods: Italian patients with GSD type Ia and Ib, who were 16 years or older, were asked to complete the SF-36 questionnaire, assessing their QoL. Data on demographic characteristics and clinical history were collected from clinical records and interviews.Results: Thirty-eight patients (22 females, 16 males; 27 with GSD Ia, 11 with GSD Ib, median age 26.5 years) completed the SF-36 questionnaire. Overall, when compared to normal values, patients with GSD I had lower median scores in general health perception and social functioning, but better median scores for bodily pain and mental health. Patients with GSD Ib had a lower Z-score than GSD Ia patients for emotional health problems. Male patients showed better Z-scores in physical functioning, general health perception, and social functioning when compared to females. Emotional health problems Z-score was lower in nephropathic patients.Conclusion: QoL can be impaired in adult patients with GSD I. The results of this study show that patients with GSD type Ib, women, and those with renal complications are more likely to experience a poorer QoL.

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“…With increasing life expectancy of such patients [11], reaching adulthood and even bearing children [12], it is anticipated that such outstanding cases may become prevalent with the need of critical care settings. Our report further illustrates that such extremely severe lactic academia can be successfully managed without dialysis.…”

Section: Discussionmentioning

confidence: 99%

Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder

Oster¹,

Wexler²,

Heyman³

et al. 2016

Case Reports in Medicine

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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.

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Pregnancies in glycogen storage disease type Ia

Cited by 37 publications

References 22 publications

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study

Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder

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