Resource Categories
Essential tools and information for patients, families, healthcare providers, and researchers in the inherited metabolic disorders community.
Emergency Support
IMPORTANT: MNT4P is a grant-supported program separate from Emory Healthcare.
For all medical emergencies and clinical care, contact the Emory Metabolic Genetics Clinic directly.
- Business Hours: Emory Metabolic Genetics Clinic (404) 778-8570
- After Hours: Page Emory geneticist on call (404) 686-5500, PIC ID# 50263
- Life-Threatening Emergencies: Always call 911
Emergency Preparedness: Emergency Preparedness Toolkit – Disorder-specific supply lists
Patient Resources
Phenylketonuria (PKU)
Educational Materials:
- PKU Summary Sheet – English [PDF]
- PKU Summary Sheet – Español [PDF]
- PKU FAQ – English [PDF]
- PKU FAQ – Español [PDF]
- PKU Diet Record [PDF]
- PKU Fact Sheet – English [PDF]
- PKU Información – Español [Web]
Support Organizations:
- Georgia PKU Connect – Local support and resources
- National PKU Alliance – Support, education and advocacy
- National PKU Alliance Research – Research opportunities
- PKU.com – Clinic locator, recipes, and resources
- BioMarin PKU Community – Industry resources
- NORD – RareCare assistance programs
Maple Syrup Urine Disease (MSUD)
Educational Materials:
- MSUD Summary Sheet – English [PDF]
- MSUD Summary Sheet – Español [PDF]
- MSUD FAQ – English [PDF]
- MSUD FAQ – Español [PDF]
- MSUD Diet Record [PDF]
- MSUD Fact Sheet – English [PDF]
- MSUD Información – Español [Web]
Support Organizations:
Get Connected – Online community
Tyrosinemia
Educational Materials:
Support Organizations:
Get Connected – Online community support
Homocystinuria (HCU)
Educational Materials:
Support Organizations:
HCU Network America – Resources, patient connections, policy advocacy
Urea Cycle Disorders
Educational Materials:
- Argininemia Fact Sheet – English [PDF]
- Argininosuccinic Aciduria (ASA) Fact Sheet – English [PDF]
- Citrullinemia (ASAS) Fact Sheet – English [PDF]
- Argininemia Información – Español [Web]
- ASA Información – Español [Web]
- Citrullinemia Información – Español [Web]
Support Organizations:
- National Urea Cycle Disorders Foundation (NUCDF) – National organization for support and advocacy
- NORD – RareCare assistance programs
- Horizon Pharma Ravicti – Medication support for ammonia control
- Good Days Program – Treatment cost assistance
Organic Acid Disorders
Includes: Propionic Acidemia (PA), Methylmalonic Acidemia (MMA), Isovaleric Acidemia (IVA), Glutaric Aciduria Type 1/2, Beta-Ketothiolase Deficiency, 3-MCC, 2-MBC
Educational Materials:
- PROP Summary Sheet – English [PDF]
- PROP Summary Sheet – Español [PDF]
- PROP FAQ – English [PDF]
- PROP FAQ – Español [PDF]
- Propionic Acidemia Diet Record [PDF]
- PA Fact Sheet – English [PDF]
- MMA Fact Sheet – English [PDF]
- IVA Fact Sheet – English [PDF]
- GA1 Fact Sheet – English [PDF]
- BKD Fact Sheet – English [PDF]
- 3MCC Fact Sheet – English [PDF]
- 2MBC Fact Sheet – English [PDF]
- PA Información – Español [Web]
- MMA Información – Español [Web]
- IVA Información – Español [Web]
- GA1 Información – Español [Web]
Support Organizations:
Organic Acidemia Association (OAA) – National organization for support and advocacy
Fatty Acid Oxidation Disorders (FAOD)
Includes: VLCAD, LCHADD, MCADD, TFP, CPT1/2, CUD, CAT, SCAD
Educational Materials:
- VLCAD Summary Sheet – English [PDF]
- VLCAD Summary Sheet – Español [PDF]
- VLCAD FAQ – English [PDF]
- VLCAD FAQ – Español [PDF]
- VLCAD Fact Sheet – English [PDF]
- LCHADD Fact Sheet – English [PDF]
- MCADD Fact Sheet – English [PDF]
- TFP Fact Sheet – English [PDF]
- Carnitine Uptake Deficiency Fact Sheet – English [PDF]
- CPT1 Fact Sheet – English [PDF]
- CPT2 Fact Sheet – English [PDF]
- CAT Fact Sheet – English [PDF]
- SCAD Fact Sheet – English [PDF]
- GA2 Fact Sheet – English [PDF]
- VLCAD Información – Español [Web]
- LCHADD Información – Español [Web]
- MCADD Información – Español [Web]
- TFP Información – Español [Web]
Support Organizations:
MitoAction – Mitochondrial and FAOD support
Other Disorders
Galactosemia:
- Galactosemia Diet Record [PDF]
- GALT Galactosemia Fact Sheet – English [PDF]
- Duarte Galactosemia Fact Sheet – English [PDF]
- GALT Información – Español [Web]
Glycogen Storage Disorders:
- Protein Diet Record [PDF]
Lysosomal Storage Disorders:
- Emory Lysosomal Storage Disease Center
- Pompe Disease Fact Sheet – English [PDF]
- Fabry Disease Fact Sheet – English [PDF]
- Gaucher Disease Fact Sheet – English [PDF]
- MPS I Fact Sheet – English [PDF]
- Pompe Información – Español [Web]
- Fabry Información – Español [Web]
Mitochondrial Disorders:
- MitoAction – Patient support and advocacy
Other Conditions:
Medical Foods & Formula
Medical Formula Manufacturers:
- Abbott Nutrition
- Cambrooke Therapeutics
- Nutricia North America
- POA Pharma North America – PKU Easy Microtabs and PKU Go
- Vitaflo USA
Low-Protein Modified Foods:
- PKU Perspectives – Online storefront
- Ajinomoto Cambrooke – Therapeutic nutrition products and recipes
- Taste Connections – Products and tutorial videos
- Nutricia Low-Protein Foods
- Promin (Zoia Pharma)
Support Tools:
- Formula Company Assistance Tool – Find support services by company and diagnosis
- Insurance Coverage Toolkit by Raenette Franco
- WIC Eligibility – Check if you qualify for WIC benefits
- WIC Patient FAQ [PDF]
- LPMF Ordering Instructions [PDF]
School Support:
General Resources
Newborn Screening & General Support:
- Baby’s First Test – Newborn screening education
- Emory’s Newborn Screening Program
- Georgia Department of Public Health Newborn Screening
- Newborn Screening Information – Comprehensive disorder fact sheets
- Children’s Medical Services – Support for children with special health care needs
- NORD – Rare disease resources and advocacy
Home Monitoring:
- Filter Paper Example [PDF]
- Heel Prick Tutorial – Video instructions
- Finger Prick Tutorial – Video instructions
- General Diet Record [PDF]
Advocacy:
- Closing the Loophole [Video] – Family stories advocating for medical food coverage
- Insurance Coverage Toolkit by Raenette Franco
Provider Resources
Access clinical guidelines, toolkits, and professional resources for healthcare providers treating patients with inherited metabolic disorders.
Clinical Guidelines & Toolkits
MNT4P partnered with Southeast Regional Genetics Network (SERN) Guidelines and Genetic Metabolic Dietitians International (GMDI) to develop evidence-based guidelines accepted by Agency for Healthcare Research and Quality (AHRQ).
Phenylketonuria (PKU)
- PKU Nutrition Guidelines – Evidence-based protocols
- PKU Clinical Toolkit – Practical implementation guide
- PKU Summary Sheet – English [PDF] – Patient education handout
- PKU Summary Sheet – Español [PDF]
- PKU FAQ – English [PDF]
- PKU FAQ – Español [PDF]
- PKU Diet Record [PDF]
Maple Syrup Urine Disease (MSUD)
Propionic Acidemia
VLCAD
Additional Guidelines
All Guidelines
SERN Complete Library – Comprehensive guideline library
Provider Tools
Patient Management
- Provider Referral Form – Refer Georgia patients for nutrition support
- Provider Wizard – Formula company resources and patient assistance programs
- Filter Paper Instructions Video – Patient education tool
- Emergency Preparedness Toolkit
Cross-Disorder Resources
- Protein Diet Record [PDF]
- General Diet Record [PDF]
- Filter Paper Example [PDF]
Professional Network
- Subscribe to GNO-METAB Listserv – Join 450+ metabolic dietitians worldwide
- GMDI – Professional organization founded by Dr. Rani Singh
- American College of Medical Genetics and Genomics (ACMG)
- Society for Inherited Metabolic Disease (SIMD)
Training & Education
Patient Monthly Programs
- eGNA Case Conference & Journal Club – Monthly webinars with CME/CEU credits
- eGNA Hub – Online educational platform
Intensive Training
- Apply for ECHO Traineeship – 12-week virtual case-based learning program
- Fellowship Programs – Post-master’s dietitian fellowship and doctoral opportunities
- Metabolic Camp Volunteer – Hands-on professional development
Research & Publications
Research publications, clinical trials, and educational materials from MNT4P.
Learn About Our Research Programs
Participate in Clinical Trials
Join studies that advance treatment options while contributing valuable data that improves care for future generations. Participate in investigator-initiated trials, novel management studies, and the Southeast Integrative Newborn Screening Consortium.
Active Clinical Trials:
- Palynziq PKU Study – Treatment impacts on diet quality and metabolome
- Metabolic Camp Research – Educational interventions
Benefits of Participation
- Early access to emerging therapies
- Contributing to future treatment options
- Access to specialized care and monitoring
Recent MNT4P Research Publications
2024
- Qualitative assessment of primary care providers’ attitudes toward genetic services
- Corrigendum: Evaluating change in diet with pegvaliase treatment
- Lived experiences of females with phenylketonuria
- Delivering Telegenetics Services: Review and Synthesis of Best Practices
- Pegvaliase for PKU: Final results of phase 3 clinical trial
- Pregnancies among women with PKU from NBS Connect registry
- Carbamylglutamate impacts nutritional management of NAGS deficiency
- Working memory and anxiety in individuals with PKU
- Evaluating diet change with pegvaliase in adults with PKU
2023
MNT4P's Rare Disease Recipe Corner
Low-protein recipes for amino acid disorders and low-fat recipes for fatty acid oxidation disorders.
Low-Protein Recipes
For PKU, MSUD, Tyrosinemia, Homocystinuria, and other amino acid disorders requiring protein restriction.
Recipe Resources
Low-Protein Recipes
Recipe resources in development – check back soon!
Coming Soon: Searchable recipe database organized by disorder type, meal category, holiday, and dietary modifications
Need help finding something?
Contact our team – we’re here to connect you with the right resources.