Management of Inborn Errors of Metabolism during Pregnancy

Clark, Brenda J.; Cockburn, F.

doi:10.1111/j.1651-2227.1991.tb18150.x

Cited by 9 publications

(6 citation statements)

References 26 publications

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“…Microcephaly significantly decreases when maternal weight gain is adequate [ 345 ]. There is also evidence that inadequate gestational weight gain is associated with decreased foetal growth and birth weight both in the general population [ 346 ] and in PKU [ 347 , 348 ], although further study is required. Data from a French survey reported in 135 pregnancies that the BMI of mothers was lower than the general population but there was no direct correlation with IUGR in children [ 349 ].…”

Section: Treatment In Specific Patient Groupsmentioning

confidence: 99%

“…In the MPKUCS, maternal energy intake was significantly and negatively correlated with plasma Phe concentrations during the last 2 trimesters of pregnancy [ 350 ]. In addition, case studies have described difficulty in maintaining blood Phe control due to weight loss and low energy intake in the first trimester [ 347 , 351 ].…”

Section: Treatment In Specific Patient Groupsmentioning

confidence: 99%

“…Many PKU centres advocate additional Tyr supplementation at some stage during pregnancy [ 333 , 347 , 351 , 362 – 371 ], although the specific requirement in maternal PKU is unknown. The amount of Tyr supplementation given is highly variable and usually without justification for the dose chosen (Table 12 ).…”

Section: Treatment In Specific Patient Groupsmentioning

confidence: 99%

“… Phe-free L-amino acid supplements Give Phe-free L-amino acid supplements chilled and encourage up to 5 or 6 times during the day in small doses. The high osmolality of Phe-free L-amino acid supplements may aggravate nauseas [ 347 ] and so may be better tolerated if given with extra fluid. If the smell of liquid or powdered Phe-free L-amino acid supplements is not tolerated, Phe-free L-amino acid tablets are worth consideration.…”

Section: Treatment In Specific Patient Groupsmentioning

confidence: 99%

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The complete European guidelines on phenylketonuria: diagnosis and treatment

Wegberg

MacDonald

Ahring

et al. 2017

Orphanet J Rare Dis

598

885

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Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method. Literature search, critical appraisal and evidence grading were conducted according to the SIGN (Scottish Intercollegiate Guidelines Network) method. The Delphi-method was used when there was no or little evidence available. External consultants reviewed the guidelines. Using these methods 70 statements were formulated based on the highest quality evidence available. The level of evidence of most recommendations is C or D. Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant. In addition, knowledge gaps are identified which require further research in order to direct better care for the future.

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Section: Treatment In Specific Patient Groupsmentioning

confidence: 99%

Section: Treatment In Specific Patient Groupsmentioning

confidence: 99%

Section: Treatment In Specific Patient Groupsmentioning

confidence: 99%

Section: Treatment In Specific Patient Groupsmentioning

confidence: 99%

See 2 more Smart Citations

The complete European guidelines on phenylketonuria: diagnosis and treatment

Wegberg

MacDonald

Ahring

et al. 2017

Orphanet J Rare Dis

598

885

View full text Add to dashboard Cite

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“…MPKU is managed by a strict low PHE diet (commonly ≤ 6 g/day natural protein is tolerated in the early stages of pregnancy but PHE amount is dependent on PKU severity), together with a PHE-free L-amino acid supplement (AA) (supplemented with tyrosine, vitamins, minerals and commonly EPA/DHA), and sufficient energy intake to ensure adequate maternal weight gain during pregnancy [9] , [10] . The protein equivalent from AA and natural protein should supply ≥ 70 g/day protein equivalent [8] .…”

Section: Introductionmentioning

confidence: 99%

Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report

Pinto

Almeida

Cunha

et al. 2017

Molecular Genetics and Metabolism Reports

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BackgroundIn maternal PKU, protein substitute (PS) is provided by phenylalanine (PHE)-free l-amino acids (AA), but glycomacropeptide-based protein substitute (GMP) is an alternative consideration.ObjectiveTo describe the first Portuguese Maternal Phenylketonuria (MPKU) partially managed with GMP.Case reportA 31 year old MPKU female with classical PKU (mutations P281L/P281L), diagnosed by newborn screening, had a lifelong history of poor metabolic control. She has a history of partial bicornuate uterus and had a previous miscarriage in the first trimester. Pre-conception, her median blood PHE was 462 μmol/L but throughout pregnancy the median reduced to 258 μmol/L. GMP provided 30 g/day protein equivalent (46 mg/day PHE). Total protein equivalent from PS increased from 58 to 86 g/day during pregnancy but AA provided all additional protein equivalent intake. Both GMP and AA were well tolerated with no morning sickness. Normal morphologic evaluation and adequate fetal growth with cephalic biometry near the 5th percentile was determined. The infant was born at 39.3 weeks: weight 2570 g (3rd percentile), length 47.5 cm (10th percentile) and head circumference (HC) of 31.5 cm (1st percentile). In the neonatal period, the infant had craniofacial dimorphism with metopic suture prominence. Father also had bitemporal narrowing. By 12 months of age, the infant's weight (15th percentile), length (50th percentile) and HC (10th–50th percentile) were normal although bitemporal narrowing persisted.ConclusionsThis is the first case reporting the use of GMP in MPKU. Its PHE content did not adversely affect metabolic control although it only provided part of the PS intake. Some intrauterine development delay occurred in the last trimester, although we consider that this is unlikely to be associated with MPKU syndrome or the use of GMP. More published data is essential to examine the impact of using GMP in MPKU on morning sickness severity and aversion, maternal weight gain, blood amino acid concentrations and variability of blood PHE concentrations.

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