Management of pregnancy in a patient with long-chain 3-hydroxyacyl coAdehydrogenase deficiency
Shakerdi, L. A., McNulty, J., Gillman, B., McCarthy, C. M., Ivory, J., Sheerin, A., O'Byrne, J. J., Donnelly, J. C., & Treacy, E. P. (2022). Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency. JIMD reports, 63(4), 265–270. https://doi.org/10.1002/jmd2.12284
Abstract: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare mitochondrial defect of β-oxidation of long-chain fatty acids. Patients may present with muscle pain, hypotonia, peripheral neuropathy, cardiomyopathy, recurrent rhabdomyolysis and sudden death. Dietary management of LCHADD aims at preventing prolonged fasting and decreasing energy production from long-chain fatty acids compensated by an increase in medium-chain triglyceride fat. Herein, we present medical and dietetic management of a successful pregnancy in a LCHADD female patient and the delivery of a healthy baby boy.
Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients
Healy, L., O'Shea, M., McNulty, J., King, G., Twomey, E., Treacy, E., Crushell, E., Hughes, J., Knerr, I., & Monavari, A. A. (2022). Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients. JIMD reports, 63(4), 379–387. https://doi.org/10.1002/jmd2.12302
Abstract: Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder that can lead to encephalopathic crises and severe dystonic movement disorders. Adherence to strict dietary restriction, in particular a diet low in lysine, carnitine supplementation and emergency treatment in pre-symptomatic patients diagnosed by high-risk screen (HRS) or newborn screen (NBS) leads to a favourable outcome. We present biochemical and clinical characteristics and long-term outcome data of 34 Irish patients with GA1 aged 1-40 years. Sixteen patients were diagnosed clinically, and 17 patients by HRS, prior to introduction of NBS for GA1 in the Republic of Ireland in 2018. One patient was diagnosed by NBS. Clinical diagnosis was at a median of 1 year (range 1 month to 8 years) and by HRS was at a median of 4 days (range 3 days to 11 years). 14/18 (77.8%) diagnosed by HRS or NBS had neither clinical manifestations nor radiological features of GA1, or had radiological features only, compared to 0/16 (0%) diagnosed clinically (p < 0.001). Patients diagnosed clinically who survived to school-age were more likely to have significant cerebral palsy and dystonia (7/11; 63.6% vs. 0/13; 0%, p < 0.001). They were less likely to be in mainstream school versus the HRS group (5/10; 50% vs. 12/13; 92.3%; p = 0.012). Clinical events occurring after 6 years of age were unusual, but included spastic diplegia, thalamic haemorrhage, Chiari malformation, pituitary hormone deficiency and epilepsy. The exact aetiology of these events is unclear.
Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment
Milner, D., Boyle, F., McNulty, J., & Knerr, I. (2023). Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment. Nutrients, 15(2), 407. https://doi.org/10.3390/nu15020407
Abstract: Iodine is an essential mineral required for the synthesis of thyroid hormones. Iodine plays a critical role in growth and neurocognitive development. Classical galactosaemia is a disorder resulting from an inborn error in galactose metabolism. Its current management consists of life-long lactose and galactose dietary restriction. This study estimated dietary intakes of iodine in infants and children with classical galactosaemia in the Republic of Ireland. The diets of 43 participants (aged 7 months-18 years) with classical galactosaemia were assessed for iodine intake using an iodine-specific food frequency questionnaire. Intakes were compared to the European Food Safety Authority (EFSA) dietary recommendations for iodine intake. The potential role of iodine fortification of dairy alternative products was also examined. There were no significant differences observed between sex, ethnicity and parental education and meeting dietary iodine recommendations. Differences, however, were seen between age groups, causing the p value to approach statistical significance (p = 0.06). Infants consuming infant formula were likely to meet iodine recommendations. However, over half (53%) of children aged 1-18 years had average intakes below the recommendations for age. For these children, consumption of iodine-fortified dairy alternative milk was the leading source of iodine in the diets, followed by fish/shellfish and eggs. An assessment of iodine intake should be undertaken during dietetic reviews for those with classical galactosaemia. Mandatory iodine fortification of all dairy alternative products would result in 92% of the total population cohort meeting iodine recommendations based on their current consumption.
A retrospective chart review and infant feeding survey in the Irish Phenylketonuria (PKU) population (2016-2020)
Rice, J., McNulty, J., O'Shea, M., Gudex, T., & Knerr, I. (2023). A Retrospective Chart Review and Infant Feeding Survey in the Irish Phenylketonuria (PKU) Population (2016-2020). Nutrients, 15(15), 3380. https://doi.org/10.3390/nu15153380
Abstract: Phenylketonuria (PKU) is an inherited disorder of protein metabolism. It is generally treated using dietary management with limited intake of phenylalanine (Phe). Partial breastfeeding (BF) is encouraged among mothers of infants with PKU, together with a Phe-free mixture of synthetic amino acids. Our aim was to describe our current BF rates and complementary feeding practices, as well as examining parental experiences of infant feeding. The objective was to better understand the challenges faced by families so that improvements can be made to clinical care. A chart review was carried out on 39 PKU patients, examining the BF rate and duration, use of second stage synthetic protein (SP), and average complementary feeding age. A parental questionnaire on complementary feeding and BF experience was designed: 26% of babies were partially breastfed at three months of age; 70% of mums would like to have breastfed for longer and cited PKU as a reason for stopping; 52% of parents reported challenges during the complementary feeding process including food refusal, protein calculation, and anxiety around maintaining good Phe levels. Suggestions to improve BF continuation and duration include active promotion of the benefits and suitability, access to lactation consultant, and peer support. The delay in introducing a second stage SP may contribute to long-term bottle use for SP. Improved patient education, written resources, and support is necessary to improve food choices and long-term acceptance of SP.