Maternal Phenylketonuria: A New Cause for Concern

Kirby, Robin B.

doi:10.1111/j.1552-6909.1999.tb01987.x

Cited by 3 publications

(3 citation statements)

References 15 publications

(41 reference statements)

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“…On clinical examination, it is often difficult to distinguish the difference between FAS and PKU. Older, untreated children with PKU present with the following: microcephaly, epilepsy, a musty body odour (caused by the build‐up of phenylactic acid in the urine), decreased skin and hair pigmentation, eczema, severe intellectual disability and behavioural problems (hyperactivity, and problems with language, memory, and attention). Magnetic resonance imaging scans also reveal visible structural brain changes .…”

Section: Pathogenesismentioning

confidence: 99%

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Phenylketonuria in pregnancy

Munyame

Vaithilingam

Rahman

et al. 2018

The Obstetric & Gynaecologis

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Key content Phenylketonuria (PKU) is a rare, autosomal recessive metabolic disorder characterised by the body's inability to utilise the essential amino acid phenylalanine. There are three different subgroups of this disorder. Untreated or poorly controlled phenylalanine levels are associated with intrauterine growth restriction and other fetal abnormalities. Fetuses born to mothers with PKU exhibit clinical similarities to those born with fetal alcohol syndrome. Management of pregnant women with PKU is best performed under a multidisciplinary team with close monitoring of phenylalanine blood levels. Learning objectives To understand the importance of pre‐conception counselling in women born with PKU. To understand the implications of hyperphenylalaninaemia on pregnancy and fetal outcomes. To understand the importance of involving a multidisciplinary team in the management of patients with PKU. Ethical issues Women with poor compliance to PKU management in the prepregnancy period are at significant risk of fetal abnormalities. Should we recommend alternative reproductive options?

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Section: Pathogenesismentioning

confidence: 99%

“…Tyr is also required for melanin production. Therefore, children with PKU and lacking Tyr tend to have blue eyes, and are fair haired and fair skinned …”

Section: Pathogenesismentioning

confidence: 99%

Phenylketonuria in pregnancy

Munyame

Vaithilingam

Rahman

et al. 2018

The Obstetric & Gynaecologis

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“…Treatment of MPKU is one of the rapidly emerging issues within the field of obstetrics (Kirby, 1999), and a great deal of clinical and empirical attention has recently been devoted to this issue. MPKU is a concern to a variety of health professionals, including obstetricians, pediatricians, psychologists, perinatologists, nutritionists, and social workers.…”

mentioning

confidence: 99%

Maternal phenylketonuria: A case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels.

Antshel¹,

Gurian²,

Waisbren³

2002

American Journal of Orthopsychiatry

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Maternal phenylketonuria (MPKU) is an increasingly common concern for health professionals involved in prenatal care. This single-participant study investigated the efficacy of prenatal psychotherapy in improving metabolic control, an important consideration in MPKU pregnancies. Results indicated a robust and positive relationship between psychotherapy and metabolic control. Levels of negative mood and levels of phenylalanine control were also strongly and positively correlated. Implications for treating MPKU are discussed, and prenatal psychotherapy is forwarded as a means of improving birth outcomes in this population.

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Adult Pediatric Patients

Carson

Hieber

2001

American Journal of Nursing

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Maternal Phenylketonuria: A New Cause for Concern

Cited by 3 publications

References 15 publications

Phenylketonuria in pregnancy

Phenylketonuria in pregnancy

Maternal phenylketonuria: A case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels.

Adult Pediatric Patients

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