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Transient neonatal multiple acyl-CoA dehydrogenase deficiency

MedGen UID:
1373921
•Concept ID:
C4509950
•
Disease or Syndrome
Synonyms: Transient neonatal glutaric acidemia type 2; transient neonatal glutaric acidemia type 2; Transient neonatal glutaric aciduria type 2; transient neonatal glutaric aciduria type 2; Transient neonatal MAD (multiple acyl-coenzyme A dehydrogenase) deficiency; Transient neonatal MAD deficiency; transient neonatal MAD deficiency; Transient neonatal MADD; transient neonatal MADD; transient neonatal multiple acyl-CoA dehydrogenase deficiency; Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency
SNOMED CT: Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (723552005); Transient neonatal multiple acyl-CoA dehydrogenase deficiency (723552005); Transient neonatal glutaric acidemia type 2 (723552005); Transient neonatal glutaric aciduria type 2 (723552005); Transient neonatal MAD (multiple acyl-coenzyme A dehydrogenase) deficiency (723552005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018014
Orphanet: ORPHA329942

Definition

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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTransient neonatal multiple acyl-CoA dehydrogenase deficiency

Recent clinical studies

Diagnosis

Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.
Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RK, Christodoulou J
Mol Genet Metab 2007 Sep-Oct;92(1-2):109-14. Epub 2007 Aug 8 doi: 10.1016/j.ymgme.2007.06.017. PMID: 17689999
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.
Goodman SI, McCabe ER, Fennessey PV, Mace JW
Pediatr Res 1980 Jan;14(1):12-7. doi: 10.1203/00006450-198001000-00004. PMID: 7360517

Therapy

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS
Mol Genet Metab 2017 Dec;122(4):182-188. Epub 2017 Nov 2 doi: 10.1016/j.ymgme.2017.10.014. PMID: 29122468
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.
Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RK, Christodoulou J
Mol Genet Metab 2007 Sep-Oct;92(1-2):109-14. Epub 2007 Aug 8 doi: 10.1016/j.ymgme.2007.06.017. PMID: 17689999

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