Maternal Phenylketonuria
An autosomal recessive congenital disease in which there is an enzymatic deficit that prevents the metabolization of the essential amino acid phenylalanine to the amino acid tyrosine, producing an accumulation of phenylalanine in the body that, untreated, damages the central nervous system causing mental deficiency.
The treatment consists of restricting from one’s diet foods that contain large amounts of phenylalanine, especially pulses, soya beans, meat, fish, eggs, cereals (except rice and corn), dairy products and the sweetener aspartame.
This restriction, which is fundamental in the initial stage of life, is recommended to be life-long.
During pregnancy, women with phenylketonuria should have stricter control of their phenylalaninemia levels through diet in order to prevent embryopathy syndrome due to phenylalanine in their babies (MotherToBaby 2017 and 2015, Lawrence 2016 p.591, Murphy 2015, Purnell 2001, Campistol 1999, Matalon 1986, Bradburn 1985).
Mothers with phenylketonuria breastfed their healthy children without problems (Purnell 2001, Fox-Bacon 1997, Matalon 1986, Bradburn 1985).
Milk from mothers with phenylketonuria controlled by diet has normal levels of phenylalanine (Matalon 1986).
Breastfeeding mothers suffering from phenylketonuria can breastfeed their healthy babies without problems, who are not affected by phenylketonuria (MotherToBaby 2017 and 2015, Lawrence 2016 p.591, Purnell 2001, Matalon 1986).
There is little or no relationship between plasma levels of phenylalanine and those of prolactin in patients who have the illness under control (Juhász 2016, Carlson 1992).
See below the information of these related products:
- Aspartame (Very Low Risk)
- Infant Phenylketonuria (Very Low Risk)
Very Low Risk
Compatible. Not risky for breastfeeding or infant.
Low Risk
Moderately safe. Mild risk possible. Follow up recommended. Read the Comment.
High Risk
Poorly safe. Evaluate carefully. Use a safer alternative. Read the Comment.
Very High Risk
Not recommended. Cessation of breastfeeding or alternative.
Writings
- Φαινυλκετονουρία μητέρας (Greek)
References
- MotherToBaby. Maternal PKU. Fact Sheet 2017 Full text (link to original source) Full text (in our servers)
- Lawrence RA, Lawrence RM. Breastfeeding. A guide for the medical profession. Eighth Edition. Philadelphia: Elsevier; 2016
- Juhász E, Kiss E, Simonova E, Patócs A, Reismann P. Serum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study. Eur J Med Res. 2016Abstract
- MotherToBaby. Fenilcetonuria materna. Hoja informativa. 2015 Full text (link to original source) Full text (in our servers)
- Murphy E. Medical Problems in Obstetrics: Inherited Metabolic Disease. Best Pract Res Clin Obstet Gynaecol. 2015Abstract
- Purnell H. Phenylketonuria and maternal phenylketonuria. Breastfeed Rev. 2001Abstract
- Campistol J, Arellano M, Poo P, Escofet C, Pérez P, Vilaseca M.A. Embriopatía por fenilcetonuria materna. Una causa de retardo mental poco diagnosticada. Revisión de 8 observaciones. (Maternal Phenylketonuria. An under-diagnosed cause of Mental Retardation. A report of 8 cases). An Esp Pediatr 1999;51:139-142. 1999 Full text (link to original source) Full text (in our servers)
- Fox-Bacon C, McCamman S, Therou L, Moore W, Kipp DE. Maternal PKU and breastfeeding: case report of identical twin mothers. Clin Pediatr (Phila). 1997Abstract
- Carlson HE, Hyman DB, Bauman C, Koch R. Prolactin responses to phenylalanine and tyrosine in phenylketonuria. Metabolism. 1992Abstract
- Matalon R, Michals K, Gleason L. Maternal PKU: strategies for dietary treatment and monitoring compliance. Ann N Y Acad Sci. 1986Abstract
- Bradburn NC, Wappner RS, Lemons JA, Meyer BA, Roberts RS. Lactation and phenylketonuria. Am J Perinatol. 1985Abstract
- Valdivieso F, Maties M, Ugarte M, Mayor F. Increased free phenylalanine in the milk of a phenylketonuric mother. Biochem Med. 1973Abstract