Carnitine palmitoyl transferase deficiency in pregnancy—A case report

Dreval, David; Bernstein, D.; Zakut, H

doi:10.1016/s0002-9378(94)70168-7

Cited by 22 publications

(6 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Indeed, there are case reports of patients with adult-onset CPT II deficiency who become pregnant and went on to deliver preterm or full-term newborns [42-45]. In order to identify IVF patients at risk of functional L-carnitine deficiency further studies are to be conducted to measure simultaneously carnitine compounds and markers of free fatty acid metabolism.…”

Section: Discussionmentioning

confidence: 99%

Acylcarnitine esters profiling of serum and follicular fluid in patients undergoing in vitro fertilization

Várnagy

Bene

Sulyok

et al. 2013

Reprod Biol Endocrinol

View full text Add to dashboard Cite

BackgroundL-carnitine-mediated beta-oxidation of fatty acids has a well established role in energy supply of oocytes and embryos. Disturbed carnitine metabolism may impair the reproductive potential in IVF and can serve as a biomarker of pregnancy outcome.MethodsOur study was performed between March 24, 2011 and May 9, 2011. We performed 44 unselected IVF cycles, (aged 23–40 years (mean: 32.3+/−5.1 years) and had BMI of 17.3-34.7 (mean: 23.80+/−4.9). Samples were also obtained from 18 healthy women of similar age admitted for minor elective surgery to serve as control for plasma carnitine profile. Serum and follicular fluid (FF) free carnitine (FC) and 20 major acylcarnitines (ACs) were measured by ESI/MS/MS method.ResultsSerum FC and AC levels in IVF patients were comparable to those in healthy control women. In FF FC and short-chain AC concentrations were similar to those in maternal serum, however, the levels of medium-chain, and long-chain AC esters were markedly reduced (p<0.05). The serum to FF ratio of individual carnitine compounds increased progressively with increasing carbon chain length of AC esters (p<0.05). There was a marked reduction in total carnitine, FC and AC levels of serum and FF in patients with oocyte number of >9 and/or with embryo number of >6 as compared to the respective values of <9 and/or <6 (p<0.05).ConclusionsIn IVF patients with better reproductive potential the carnitine/AC pathway appears to be upregulated that may result in excess carintine consumption and relative depletion of carnitine pool. Consequently, IVF patients may benefit from carnitine supplementation.

show abstract

Section: Discussionmentioning

confidence: 99%

Acylcarnitine esters profiling of serum and follicular fluid in patients undergoing in vitro fertilization

Várnagy

Bene

Sulyok

et al. 2013

Reprod Biol Endocrinol

View full text Add to dashboard Cite

show abstract

“…There have been only seven previous reports of the management of CPT type 2 deficiency in labour [4][5][6][7][8][9] . The first of these involved two pregnancies in the same patient and was published in 1994 4 . Previous reports describe women with CPT type 2 deficiency who delivered either vaginally (Table 1) or by caesarean section (Table 2).…”

Section: Discussionmentioning

confidence: 99%

“…Raised creatine kinase infusions are regarded as a mainstay of treatment, with regular blood glucose monitoring continued into the postpartum period [4][5][6][7][8][9] . Regional analgesia was used in four of the five patients who had a vaginal delivery.…”

Section: Raised Creatine Kinase and Brief Hypoglycaemiamentioning

confidence: 99%

Labour Management of a Woman with Carnitine Palmitoyl Transferase Type 2 Deficiency

Grivell

Cyna

2009

Anaesth Intensive Care

View full text Add to dashboard Cite

Carnitine palmitoyl transferase (CPT) type 2 deficiency is a disorder of mitochondrial fatty acid oxidation. In situations where energy stores are inadequate, such as may occur during labour, women with CPT type 2 deficiency are at risk of rhabdomyolysis. There is limited experience in the management of women with this condition in labour. We report a case of successful labour management of a woman with CPT type 2 deficiency, together with a brief review of the published case reports and a discussion of the issues surrounding anaesthetic management.

show abstract

“…There have been four case reports of pregnancies in women with CPT II deficiency (12,(16)(17)(18). In two cases, the condition was not diagnosed prior to delivery.…”

Section: Figurementioning

confidence: 99%

Mitochondrial fatty acid transport enzyme deficiency—implications for in vitro fertilization

Hull

Németh

Hague

et al. 2009

Fertility and Sterility

View full text Add to dashboard Cite

Carnitine palmitoyl transferase deficiency in pregnancy—A case report

Cited by 22 publications

References 3 publications

Acylcarnitine esters profiling of serum and follicular fluid in patients undergoing in vitro fertilization

Acylcarnitine esters profiling of serum and follicular fluid in patients undergoing in vitro fertilization

Labour Management of a Woman with Carnitine Palmitoyl Transferase Type 2 Deficiency

Mitochondrial fatty acid transport enzyme deficiency—implications for in vitro fertilization

Contact Info

Product

Resources

About