Acute liver failure in pregnancy associated with maternal MCAD deficiency

Santos, Luis Humberto Ribas dos; Patterson, Amanda; Moreea, Sulleman; Lippiatt, Carys; Walter, J H; Henderson, M J

doi:10.1007/s10545-006-0520-8

Cited by 30 publications

(19 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…6 Santos et al reported a case of undiagnosed maternal MCAD deficiency presenting with acute liver failure during pregnancy. 17 A 29-year-old Caucasian primigravida felt unwell during pregnancy and had poor oral intake. In the 39th week, blood analysis showed signs of hepatopathy, and acute fatty liver was suspected leading to Caesarean section and delivery of a healthy boy.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…Acute liver failure in pregnancy might have occurred coincidentally with MCAD deficiency, but it cannot be ruled out as the underlying condition triggering an unusual presentation. 17 Since there are no subtle specific symptoms or signs of MCAD deficiency that could help physicians suspect this disease before patients present with severe hypoglycemic coma and its consequences, NBS for MCAD deficiency is essential to detect affected individuals. 3,[18][19][20][21][22][23][24][25][26] The introduction of tandem mass spectrometry (MS/MS) NBS programs in the 1990s have helped to reduce metabolic crisis and death in MCAD deficiency.…”

Section: Clinical Presentationmentioning

confidence: 99%

See 1 more Smart Citation

Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives

Soler‐Alfonso¹,

Bennett²,

Fıçıcıoğlu³

2016

RRN

View full text Add to dashboard Cite

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder associated with fatty acid oxidation. The disorder is characterized by inability to generate sufficient energy from fatty acid metabolism during periods of catabolic stress caused by intercurrent illness or prolonged fasting. The metabolic consequences are severe and include hypoketotic hypoglycemia leading to a Reye-like hepatic encephalopathy syndrome and sudden death. If individuals are detected before a life-threatening episode, the complications of MCAD deficiency are preventable. Newborn metabolic screening enables the early detection of MCAD deficiency in many countries worldwide. The metabolic marker for MCAD deficiency "octanoylcarnitine" (C8) can be detected with a high degree of sensitivity in the newborns by tandem mass spectrometry. The 985A.G (K329E) mutation accounts for the majority of disease alleles, and approximately 47%-80% of MCAD patients are homozygotes for this mutation. Newborns homozygous for the 985A.G mutation have higher octanoylcarnitine levels than those who are heterozygous for 985A.G mutation or possess other genotypes. Time of sampling after birth and prematurity may affect the octanoylcarnitine levels in MCAD-deficient newborns. Tandem mass spectrometry newborn blood spot screening for MCAD deficiency is accurate and effective, and reduces morbidity and mortality in affected children.

show abstract

Section: Clinical Presentationmentioning

confidence: 99%

Section: Clinical Presentationmentioning

confidence: 99%

Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives

Soler‐Alfonso¹,

Bennett²,

Fıçıcıoğlu³

2016

RRN

View full text Add to dashboard Cite

show abstract

“…There are a few reports that suggest that other enzymes of FAO may be involved as well [179,182]. Fetal hepatic carnitine palmytoiltransferase (CPT I) deficiency was reported to cause maternal AFLP in two successive pregnancies.…”

Section: Pathogenesismentioning

confidence: 99%

“…There is one case report of recurrent AFLP and hyperemesis gravidarum in two successive pregnancies in a patient whose offspring were diagnosed with CPT I deficiency [183]. A different author reported pre-existing undiagnosed maternal medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the patient with AFLP, who delivered a baby without enzyme abnormalities [182]. The results of a study that looked at the incidence of maternal liver disease in pregnancies with fetal FAO defects suggested that fetal longchain defects are 50 times more likely to develop a liver disease in pregnancy when compared with healthy controls; and short-and medium-chain FAO defects are 12 times more likely to develop liver disease [179].…”

Section: Pathogenesismentioning

confidence: 99%

Pregnancy-Associated Liver Disorders

Hepburn

2008

Dig Dis Sci

View full text Add to dashboard Cite

Liver disorders associated with pregnancy include hyperemesis gravidarum (HG), intrahepatic cholestasis of pregnancy (ICP), preeclampsia, syndrome of hemolysis, elevated liver enzymes and low platelets (HELLP), and acute fatty liver of pregnancy (AFLP). These conditions are relatively common and unique to pregnancy and are more likely to occur at certain terms of gestation specific to each condition. They can be associated with significant maternal and fetal morbidity and mortality. Although managing such patients may be very challenging, spontaneous resolution of the disease occurs shortly after termination of the pregnancy, usually without hepatic sequellae. Early diagnosis and timely treatment is a key to therapeutic success. This article explores the clinical features, pathophysiology, and management of these disorders.

show abstract

“…CPT2 deficiency, MCADD and VLCADD have been described in several case reports (Ramsey and Biggio 2005;Santos et al 2007;Yamamoto et al 2015).…”

Section: Introductionmentioning

confidence: 96%

Management of an LCHADD Patient During Pregnancy and High Intensity Exercise

et al. 2016

View full text Add to dashboard Cite

In this report we describe a female Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) patient who suffered from severe exercise intolerance. At age 34, the patient became pregnant for the first time. After an uneventful first 32 weeks of pregnancy she developed sinus tachycardia (resting heart rate 120-134 bpm) and lactate and creatinine kinase levels increased (3.3 mmol/L and 264 U/L, respectively). Increasing MCT supplementation (dose and frequency of administration) lowered heart rate and improved biochemical parameters. At 34 weeks the heart rate rose again and it was decided to deliver the child by caesarean section. Postpartum both mother and child did well.Prior to pregnancy, she performed exercise tests with different doses of medium chain triglycerides (MCTs) to establish a safe and effective exercise program (baseline test, second test with 10 g MCTs and third test with 20 g of MCTs). In the MCT supplemented tests the maximal power output was 23% (second test) and 26% (third test) higher, while cardiac output at maximal power output was the same in all three tests (~15.8 L/min).In conclusion, this is the first report of pregnancy in an LCHADD patient, with favourable outcome for both mother and child. Moreover, in the same patient, MCT supplementation improved cardiac performance and metabolic parameters during high intensity exercise. Using impedance cardiography, we got a clear indication that this benefit was due to improved muscle energy generation at high intensity exercise, since at the same cardiac output a higher power output could be generated.

show abstract

Acute liver failure in pregnancy associated with maternal MCAD deficiency

Cited by 30 publications

References 5 publications

Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives

Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives

Pregnancy-Associated Liver Disorders

Management of an LCHADD Patient During Pregnancy and High Intensity Exercise

Contact Info

Product

Resources

About