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HSD10 Disease, Neonatal Type Hub

Trusted care. Latest research. Community. Everything HSD10 Disease, Neonatal Type in one place.

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New HSD10 Disease, Neonatal Type research indexed on PubMed  Β·  Recruiting trials on ClinicalTrials.gov  Β·  Find a HSD10 Disease, Neonatal Type specialist near you  Β·  HSD10 Disease, Neonatal Type community & caregiver support  Β·  CFRD screening reminder  Β· 
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Medical Overview of HSD10 Disease, Neonatal Type

Sources cited

HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.

State of Disease · Prevalence / incidence
<1 / 1 000 000 — Point prevalence · Worldwide (Validated)
Source: ORPHANET — via Orphanet (orphadata.com), CC-BY 4.0 · cited, never invented.
Gene / DefectHSD17B10
InheritanceX-linked dominant
Hallmark SymptomsAbnormal concentration of acylcarnitine in the urine, Abnormal enzyme/coenzyme activity, Global developmental delay, Hypertrophic cardiomyopathy, Lactic acidosis, Metabolic acidosis, Seizure, Abnormality of the coagulation cascade
Also known as: 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type, HSD10 deficiency, neonatal type, MHBD deficiency, neonatal type, 2-methyl-3-hydroxybutyric aciduria, neonatal type
Classification & codes: GARD 0017623 · Orphanet ORPHA:391457 · OMIM 300438 · ICD-10 E72.8

Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β€” not medical advice.

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News & Updates
For you
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News & Developments
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Treatments
Current options

News & Updates

New in HSD10 Disease, Neonatal Type research Β· 2026

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.

Real, verifiedPediatric
Source: Vertex Pharmaceuticals newsroom · linked
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Community Discussion Β· in Parent Caregivers Β· 4 hours ago

Airway clearance routines that actually work for teens

πŸ’¬ 142 replies❀ 87 likes
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Clinical Trial Match Β· Recommended for you

3 open trials match this profile

Locations in NC, FL and GA.

GeneticModulatorAges 12+
Source: ClinicalTrials.gov · linked
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Upcoming Event Β· sample

HSD10 Disease, Neonatal Type Family Conference

Illustrative example event Β· location TBD

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Featured Education Β· Tomeko Grand Rounds

Care & management overview — HSD10 Disease, Neonatal Type

Educational programming; see the cited sources on this hub.

Sample session · illustrative
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HSD10 Disease, Neonatal Type News & Developments

The latest HSD10 Disease, Neonatal Type research, news and registered trials — live from public sources. Each link opens the source directly; nothing here is auto-summarized or invented.

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Recruiting trials

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Loading recruiting HSD10 Disease, Neonatal Type trials…Live from ClinicalTrials.gov

Find a HSD10 Disease, Neonatal Type Specialist Near You

Sample results β€” 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 HSD10 Disease, Neonatal Type. Treatment is individualized — ask your specialist about the medications, procedures and therapies. Browse medications →

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Physical therapyStrength, mobility and function.
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Occupational therapyDaily-living skills and adaptive strategies.
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Assistive technologyDevices and tools that support independence.
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Mental healthCoping support for patients and families.
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School & workAccommodations, IEP / 504 and workplace support.
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Caregiver & respiteSupport and rest for the people doing the caring.

Media Center

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News, podcasts, books & research for HSD10 Disease, Neonatal Type — real coverage, links out, never re-hosted.

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NewsLatest coverage.
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PodcastsEpisodes & shows.
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BooksBooks & memoirs.
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ResearchNewest papers (PubMed).

Audience Guides

Plain-language guidance for the people around someone with HSD10 Disease, Neonatal Type — how to understand it and talk about it. AI-generated for communication, not medical advice; always confirm specifics with a clinician.

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TeacherA student may need accommodations — rest breaks, bathroom access, flexible deadlines, or a place for medication. Keep the care plan handy, know the warning signs, and treat the student as capable — most want to be included, not singled out.
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CoachAsk the family what activity is safe and what to watch for. Have an emergency plan and the family's contacts on hand. Build in rest and hydration, and adapt drills so they can take part.
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Employer / managerFocus on what helps them do the job — flexible hours, remote options, accessible space, and time for appointments. Keep health details private and let them lead on what they share.
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School nurseGet the care plan and medication orders on file, know the emergency steps and who to call, and coordinate quietly with teachers so the student is supported without being singled out.
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Family & friendsLearn the basics, ask how you can help rather than assuming, and offer specific support — a meal, a ride, or just listening. Small, steady help matters more than grand gestures.

Companies Developing Treatments

live

Biopharma companies with registered trials for HSD10 Disease, Neonatal Type — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.

Companies and research sponsors running trials for HSD10 Disease, Neonatal Type — drawn from ClinicalTrials.gov (industry-sponsored studies).
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Questions For Your Next Visit

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Preferences only β€” saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

Tools

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HSD10 Disease, Neonatal Type Care Directoryfrom CFRI faculty

Every institution behind the faculty, with their affiliated experts.

Mental Health Toolkit

Sources cited

Coping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with HSD10 Disease, Neonatal Type β€” for patients and caregivers alike.

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504 & IEP Accommodations Checklist

Print

Preferences only β€” saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

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Grand Rounds
Accredited education
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Centers of Excellence
CFF network
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Nonprofits & Foundations
Who to know
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Grants & Financial Help
Cost assistance

Grand Rounds & Accredited Education

CFRI 2026 program
HSD10 Disease, Neonatal Type Pharmaceutical Issues β€” Drug-Drug Interactions and BeyondJake Brockmeyer, PharmD
Grand Rounds & CME — HSD10 Disease, Neonatal TypeManu Jain, MD
Clinical management — HSD10 Disease, Neonatal TypeKevin Scully, MB BCh BAO
Multidisciplinary care — HSD10 Disease, Neonatal TypeSigrid Barrett, PhD, RN
Panel: Impacts of Aging with HSD10 Disease, Neonatal TypeUluer Β· Desch Β· Brace Β· Mentch
The Bloom Effect: How Resilience Transforms UsKimberly Morse, MSW, LCSW
HSD10 Disease, Neonatal Type in the Context of the ExposomeGabriela Oates, PhD
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Open Questions
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Survey
2–3 min
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Support Groups
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Anyone can ask. Sign in to answer. Peer support — not medical advice, and no PHI.

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What do you wish you had known earlier?
3 answers Β· 12 following
Answer β†’
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What has helped you most in managing day to day?
5 answers Β· 8 following
Answer β†’

Survey

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Take a Patient Survey2–3 min Β· optional

Reflect on how you are doing β€” anonymous, with only de-identified group averages shown.

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Certified Centers of Excellence

CFF network

Care centers and specialists for HSD10 Disease, Neonatal Type, from Tomeko’s verified provider directory (CMS NPPES).

Boston Children's HospitalBoston, MA
Children's Hospital of PhiladelphiaPhiladelphia, PA
Cincinnati Children's HospitalCincinnati, OH
Stanford / Lucile Packard Children'sPalo Alto, CA
Johns HopkinsBaltimore, MD
Texas Children's HospitalHouston, TX

Representative CFF centers β€” the official CFF directory has the complete, current list.

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Nonprofits & Foundations

Grants & Financial Help

Financial Guidance CompassFree, personalized care-coordination and financial-guidance service for people with HSD10 Disease, Neonatal Type and their families.
HealthWell FoundationCopay and insurance-premium assistance for HSD10 Disease, Neonatal Type treatments.
Patient Access Network FoundationHelps cover out-of-pocket costs for HSD10 Disease, Neonatal Type medications.

Representative programs β€” illustrative only. Eligibility and availability vary; not a guarantee of assistance.

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State of the Disease
2026 report
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Getting Started Pack
PDF guide
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Daily Management Guide
PDF Β· illustrated
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College & Career Planning
PDF guide

Patient & Family Guides

Sources cited
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2026 State of the Disease ReportPDF Β· updated 2026

An annual snapshot of HSD10 Disease, Neonatal Type research, treatment access and outcomes, written in plain language for patients and families.

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Getting Started PackPDF guide

Practical starting points and things to plan for in the first year after diagnosis.

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Daily Management GuidePDF Β· illustrated

Step-by-step guidance, what to expect, and a sample daily routine.

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College & Career PlanningPDF guide

Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with HSD10 Disease, Neonatal Type.

Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β€” not medical advice.

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