Living with Transient neonatal multiple acyl-CoA dehydrogenase deficiency
A very rare condition in newborns caused by low riboflavin (vitamin B2) in the mother, which clears with riboflavin treatment.
Understanding Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Babies can have a poor suck, a build-up of acid in the blood (metabolic acidosis), and low blood sugar. GARD says it resolves completely with riboflavin taken by mouth. In the one case described, the mother had a change in one copy of the riboflavin transporter gene (hRFT1).
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but the summary describes these features:
- Poor suck
- Too much acid in the blood (metabolic acidosis)
- Low blood sugar (hypoglycemia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is caused by low riboflavin in the mother. In the one case described, the mother had a change in one copy of the hRFT1 gene (haploinsufficiency).
Also known as: transient neonatal glutaric acidemia type 2; transient neonatal glutaric aciduria type 2; transient neonatal mad (multiple acyl-coenzyme a dehydrogenase) deficiency; transient neonatal mad deficiency; transient neonatal madd; transient neonatal multiple acyl-coenzyme a dehydrogenase deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Transient neonatal multiple acyl-CoA dehydrogenase deficiency.
Explore research for Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Explore actively recruiting Transient neonatal multiple acyl-CoA dehydrogenase deficiency studies with HealthSpark.
Find actively recruiting studies for Transient neonatal multiple acyl-CoA dehydrogenase deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Transient neonatal multiple acyl-CoA dehydrogenase deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Transient neonatal multiple acyl-CoA dehydrogenase deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.