What can we help you with today?
🔗 CustomizeMedical Overview of Transketolase Deficiency
Sources citedA rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).
Classification & codes: GARD 0017894 · Orphanet ORPHA:488618 · OMIM 617044 · ICD-10 E74.8
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.
News & Updates
ALYFTREK shows positive Phase 3 results in children ages 2–5
Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.
Airway clearance routines that actually work for teens
3 open trials match this profile
Locations in NC, FL and GA.
Transketolase Deficiency Family Conference
Illustrative example event · location TBD
Care & management overview — Transketolase Deficiency
Educational programming; see the cited sources on this hub.
Transketolase Deficiency News & Developments
The latest Transketolase Deficiency research, news and registered trials — live from public sources. Each link opens the source directly; nothing here is auto-summarized or invented.
Recruiting trials
View all →Find a Transketolase Deficiency Specialist Near You
Sample results — illustrative only. A real version would search the NPPES provider registry and CFF-certified centers by actual distance from your ZIP.
Treatment & Daily Living
Medical care plus the everyday therapies and supports relevant to Transketolase Deficiency. Treatment is individualized — ask your specialist about the medications, procedures and therapies. Browse medications →
Media Center
News, podcasts, books & research for Transketolase Deficiency — real coverage, links out, never re-hosted.
Audience Guides
Plain-language guidance for the people around someone with Transketolase Deficiency — how to understand it and talk about it. AI-generated for communication, not medical advice; always confirm specifics with a clinician.
Companies Developing Treatments
Biopharma companies with registered trials for Transketolase Deficiency — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
Tools
Every institution behind the faculty, with their affiliated experts.
Plain-language tools
For clinicians, nonprofits & industry partners.
Translates any dense medical text — papers, lab results, visit notes, jargon — into plain language.
Live on tomekohealth.com — not a demo mock-up.
Research Collaboration & Matching
Live on tomekohealth.com — not a demo mock-up.
Mental Health Toolkit
Sources citedCoping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with Transketolase Deficiency — for patients and caregivers alike.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
Grand Rounds & Accredited Education
Open Questions
Ask the community →Anyone can ask. Sign in to answer. Peer support — not medical advice, and no PHI.
Survey
Reflect on how you are doing — anonymous, with only de-identified group averages shown.
Community & Support Groups
For people living with Transketolase Deficiency. Peer support, not medical advice; no PHI.
For caregivers and family navigating Transketolase Deficiency.
Recent From the Community
Certified Centers of Excellence
CFF networkCare centers and specialists for Transketolase Deficiency, from Tomeko’s verified provider directory (CMS NPPES).
Representative CFF centers — the official CFF directory has the complete, current list.
Nonprofits & Foundations
Grants & Financial Help
Representative programs — illustrative only. Eligibility and availability vary; not a guarantee of assistance.
Patient & Family Guides
Sources citedAn annual snapshot of Transketolase Deficiency research, treatment access and outcomes, written in plain language for patients and families.
Practical starting points and things to plan for in the first year after diagnosis.
Step-by-step guidance, what to expect, and a sample daily routine.
Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with Transketolase Deficiency.
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.