A series of pregnancies in women with inherited metabolic disease

Langendonk, Janneke G.; Roos, Jonathan C. P.; Angus, Lindsay; Williams, Monique; Karstens, Francois P. J.; Klerk, Johannes B C de; Maritz, C.; Ben‐Omran, Tawfeg; Williamson, Catherine; Lachmann, Robin; Murphy, Elaine

doi:10.1007/s10545-011-9389-2

Cited by 70 publications

(110 citation statements)

References 33 publications

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“…Good compliance was achieved by repeated tuition regarding medical and dietary instructions given during repeated visits in the outpatient clinic. In contrast, lack of compliance, which was also due to learning difficulties, promoted metabolic decompensations and eventually led to fatal decompensation in the case described above (Langendonk et al 2012).…”

Section: Discussionmentioning

confidence: 91%

“…Indeed, four pregnancies in two patients reported previously followed a complicated course with recurrent metabolic decompensations, abortions, and death of one mother (Langendonk et al 2012), while one patient developed metabolic decompensation during labor and delivery (Pipitone et al 2016). One reason for decompensation may be the reportedly low compliance of one patient, which was also due to learning difficulties.…”

Section: Discussionmentioning

confidence: 96%

“…Subsequently, she had spontaneous abortion. The same patient, although well at the 6th gestational week, decided to have termination of her second pregnancy (Langendonk et al 2012). The third reported patient (Pipitone et al 2016) had an uneventful pregnancy, but developed complications during labor and delivery including metabolic acidosis as well as premature rupture of membranes, intrapartum bleeding requiring transfusion, tachycardia, and hypertension.…”

Section: Discussionmentioning

confidence: 96%

“…To our knowledge, five pregnancies in three patients with HMG-CoA lyase deficiency have been described (Langendonk et al 2012;Pipitone et al 2016). One patient underwent the first pregnancy with recurrent metabolic decompensation, but delivered a healthy child.…”

mentioning

confidence: 99%

“…Subsequently, spontaneous abortion occurred. Three years later, she presented again at week 6 of gestation and, although well, decided to terminate pregnancy (Langendonk et al 2012). The third patient had an uneventful pregnancy and delivered a healthy child, but developed several complications during labor and delivery including metabolic acidosis (Pipitone et al 2016).…”

mentioning

confidence: 99%

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Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

et al. 2017

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In patients with 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency (OMIM 246450), five pregnancies have been described worldwide, which were either terminated or resulted in severe metabolic sequelae during pregnancy or delivery. Here, we report on a patient with HMG-CoA lyase deficiency, who underwent two uncomplicated pregnancies. The 19-year-old patient was admitted because of recurrent vomiting and nausea. Diagnostics revealed pregnancy at week 8 of gestation. Metabolic analyses revealed normal lactate and blood glucose levels and normal acid-base status. Urine organic acid analysis showed an elevated excretion of 3-CH 3 -glutaric acid, 2,3-CH 3 -glutaconic acid, and 3-CH 3 -3-OH-glutaric acid. Oral treatment with carnitine and glucose wes administered intravenously during the period of nausea and vomiting. After clinical recovery, a diet with 0.89 g/kg of protein/d and 38 kcal/kg body weight/d was given. Meals were taken every 3 h. Additionally, 70 g of starch was given at midnight to maintain normoglycemia at night time. Peripartum, a complete parenteral nutrition, was delivered through a central venous catheter. The patient delivered a healthy male infant by Caesarean section at week 38 of gestation (Apgar 9/10/10) and remained metabolically stable throughout the peripartum period. Postpartum nutrition was gradually changed from parenteral to oral diet. Two years later, the patient became pregnant again and presented with hyperemesis gravidarum. With metabolic monitoring and treatment as before no decompensation occurred. At week 38 of gestation, she delivered a healthy female infant by elective Caesarian section (Apgar 9/10/ 10). This case report describes the metabolic and obstetric management of two pregnancies in a patient with HMGCoA lyase deficiency with favorable outcome without metabolic complications.

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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 96%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

et al. 2017

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Disorders of Metabolism of Amino Acids and Related Compounds

Gropman¹,

Arnold²,

Vockley³

2021

Genetic Disorders and the Fetus

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The management of pregnancy and delivery in 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

Pipitone

Raval

Duis

et al. 2016

American J of Med Genetics Pt A

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3-hydroxy-3-methylglutaric (HMG)-CoA lyase is required for ketogenesis and leucine degradation. Patients with HMG-CoA lyase deficiency typically present with hypoketotic hypoglycemia and metabolic acidosis, which can be fatal if untreated. The patient is a 28-year-old female with HMG-CoA lyase deficiency who presented at 4 weeks gestation for prenatal care. Protein intake as well as carnitine supplementation were gradually increased to support maternal and fetal demands up to 65 g per day for protein and 80 mg/kg/day for carnitine. Fetal growth was appropriate. At 36 5/7 weeks, she presented with spontaneous rupture of membranes. Twice maintenance 10% glucose-containing intravenous fluids were initiated. During labor, vomiting and metabolic acidosis developed. Delivery was by cesarean. Preeclampsia developed postpartum. The patient recovered well and was discharged home on postpartum day 5. Stress of pregnancy and labor and delivery can lead to metabolic decompensation in HMG-CoA lyase deficiency. Patients should be monitored closely by a biochemical geneticist, dietitian, and high-risk obstetrician at a tertiary care center during their pregnancy. Fasting should be avoided. Intravenous 10% glucose-containing fluids should be provided to prevent catabolism and metabolic decompensation during labor and delivery.

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A series of pregnancies in women with inherited metabolic disease

Cited by 70 publications

References 33 publications

Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

Disorders of Metabolism of Amino Acids and Related Compounds

The management of pregnancy and delivery in 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

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