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MULTIDISPLINARY TEAM

Managing MCT8 deficiency (Allan-Herndon-Dudley syndrome [AHDS]) requires a multidisciplinary team.1 Collaboration among endocrinologists, neurologists, and geneticists supports early diagnosis, while coordination across a broad multidisciplinary team provides ongoing care.1

International data highlight significant gaps and unmet needs in MCT8 deficiency, underscoring the need for improved diagnostic and management strategies to support survival and quality of life.1

Why Multidisciplinary Care Matters

MCT8 deficiency is a rare X-linked disorder characterized by severe neurodevelopmental impairment and peripheral thyrotoxicosis.2 Patients often experience challenges that make care highly complex1,2:

  • Feeding difficulties
  • Movement disorders
  • Cardiovascular complications

A multidisciplinary team can help ensure:

  • Early and accurate diagnosis through coordinated input from endocrinology, neurology, and genetics1
  • Optimized daily care by addressing challenges in areas such as feeding and mobility1
  • Improved outcomes by reducing complications such as aspiration pneumonia, progressive deterioration in body weight, failure to thrive, and sudden cardiac death1,3
Major unmet patient needs graphic.

Multidisciplinary collaboration is essential to address the impact of MCT8 deficiency and address the everyday challenges of the condition.1

MULTIDISCIPLINARY TEAM FOR MCT8 DEFICIENCY1,5

Specialist Role & Areas of Attention
Pediatric Endocrinologist Monitor thyrotoxicosis, growth, etc.
Medical Genetics/Genetic Counselor Provide diagnostic findings and caregiver education
Pediatric Neurologist Manage movement disorders, seizures, drooling
General Pediatrician/Internist Coordinate complex needs
Pediatric Cardiologist Monitor arrhythmias, blood pressure
Pediatric Gastroenterologist Address reflux, constipation, feeding tube placement
Orthopedic Surgeon Assess scoliosis, hip luxation
Physical Therapist Motor training, GMFM-88 evaluation
Neuropsychologist Cognitive assessment (BSID-III, VABS-II)
Speech Therapist Swallowing optimization
Dietitian/Nutrologist Nutritional optimization
Clinical Chemist Interpret thyroid function panel

BSID-III=Bailey 432 Scale of Infant Development III; GMFM-88=Gross Motor Function Measure 88; VABS-II=Vineland Adaptive Behavior Scales II.

There are currently no FDA-approved treatments for MCT8 deficiency.1

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References: 1. Bauer AJ, Auble B, Clark AL, et al. Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review. Front Pediatr. 2024;12:1444919. 2. van Geest FS, Gunhanlar N, Groeneweg S, Visser WE. Monocarboxylate transporter 8 deficiency: from pathophysiological understanding to therapy development. Front Endocrinol (Lausanne). 2021;12:723750. 3. Groeneweg S, van Geest FS, Peeters RP, Heuer H, Visser WE. Thyroid hormone transporters. Endocr Rev. 2020;41(2):146-201. 4. van Geest FS, Groeneweg S, Popa VM, Stals MAM, Visser WE. Parent perspectives on complex needs in patients with MCT8 deficiency: an international, prospective, registry study. J Clin Endocrinol Metab. 2024;109(1):e330–e335. 5. van Geest FS, Groeneweg S, Popa VM, Stals MAM, Visser WE. Parent perspectives on complex needs in patients with MCT8 deficiency: an international, prospective, registry study. J Clin Endocrinol Metab. 2024;109(1)(suppl):e330–e335. Accessed January 7, 2026. https://pure.eur.nl/ws/portalfiles/portal/96758267/Supplementary_material_MCT8_parents_perspectives.pdf