ArticleThe Journal of clinical endocrinology and metabolism2023
Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study.
Article in The Journal of clinical endocrinology and metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- Thyrotoxicosis in MCT8 deficiency.The Journal of clinical endocrinology and metabolism · 2026Review
- MCT8 Deficiency in Infancy: Opportunities for Early Diagnosis and Screening.International journal of neonatal screening · 2025Article
- Article
- Criteria to evaluate unmet health-related needs of persons living with rare diseases and their caregivers: rapid literature review and stakeholder consultations.Orphanet journal of rare diseases · 2025Review
- Lifestyle Interventions to Tackle Cardiovascular Risk in Thyroid Hormone Signaling Disorders.Nutrients · 2025Review
- MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation inCase reports in genetics · 2025Article
- Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.Thyroid : official journal of the American Thyroid Association · 2024Article
- Diagnosis and Therapy in MCT8 Deficiency: Ongoing ChallengesJournal of clinical research in pediatric endocrinology · 2024Article
- Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.JCI insight · 2024Article
- Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review.Frontiers in pediatrics · 2024Review
- Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study.The Journal of clinical endocrinology and metabolism · 2023Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
contextMonocarboxylate transporter 8 (MCT8) deficiency is a rare neurodevelopmental and metabolic disorder, with daily care posing a heavy burden on caregivers. A comprehensive overview of these complex needs and daily care challenges is lacking.
designWe established an international prospective registry to systemically capture data from parents and physicians caring for patients with MCT8 deficiency. Parent-reported data on complex needs and daily care challenges were extracted.
resultsBetween July 17, 2018, and May 16, 2022, 51 patients were registered. Difficulties in daily life care were mostly related to feeding and nutritional status (17/33 patients), limited motor skills (12/33 patients), and sleeping (11/33 patients). Dietary advice was provided for 11/36 patients. Two of 32 patients were under care of a cardiologist. Common difficulties in the diagnostic trajectory included late diagnosis (20/35 patients) and visiting a multitude of specialists (15/35 patients). Median diagnostic delay was significantly shorter in patients born in or after 2017 vs before 2017 (8 vs 19 months, P < .0001).
conclusionsFeeding and sleeping problems and limited motor skills mostly contribute to difficulties in daily care. The majority of patients did not receive professional dietary advice, although being underweight is a key disease feature, strongly linked with poor survival. Despite sudden death being a prominent cause of death, potentially related to the cardiovascular abnormalities frequently observed, patients were hardly seen by cardiologists. These findings can directly improve patient-centered multidisciplinary care and define patient-centered outcome measures for intervention studies in patients with MCT8 deficiency.
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