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transient neonatal multiple acyl-CoA dehydrogenase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

transient neonatal multiple acyl-CoA dehydrogenase deficiency

MONDO:0018014

Also known as:transient neonatal MAD deficiencytransient neonatal MADDtransient neonatal glutaric acidemia type 2

Overview

Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.

ResearchLimited published research (5 articles)

Diagnosis

Biomarker and diagnostic research for transient neonatal multiple acyl-CoA dehydrogenase deficiency has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for transient neonatal multiple acyl-CoA dehydrogenase deficiency.

5 publications have been identified in PubMed for transient neonatal multiple acyl-CoA dehydrogenase deficiency. Research spans Diagnostic / Biomarker (40%), Case Report / Case Series (40%), and Basic Science / Preclinical (20%).

Recent Publications

Barbetti R (2026). [PMID: 42181774](https://pubmed.ncbi.nlm.nih.gov/42181774/). *Mol Genet Metab Rep*. [Case Report / Case Series]
Dong R (2026). [PMID: 42216180](https://pubmed.ncbi.nlm.nih.gov/42216180/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]
Panichsillaphakit E (2025). [PMID: 40324939](https://pubmed.ncbi.nlm.nih.gov/40324939/). *BMJ case reports*. [Case Report / Case Series]
Wichajarn K (2025). [PMID: 40265447](https://pubmed.ncbi.nlm.nih.gov/40265447/). *Int J Neonatal Screen*. [Diagnostic / Biomarker]
Głąb-Jabłońska E (2025). [PMID: 41346164](https://pubmed.ncbi.nlm.nih.gov/41346164/). *J Mother Child*. [Diagnostic / Biomarker]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:329942

GARD

Genetic and Rare Diseases Info Center

GARD:21498

Questions for Your Care Team

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transient neonatal multiple acyl-CoA dehydrogenase deficiency

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team