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Maternal riboflavin deficiency

MedGen UID:
1657395
Concept ID:
C4750953
Disease or Syndrome
Synonym: maternal riboflavin deficiency
SNOMED CT: Maternal riboflavin deficiency (773549000)
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.
 
Monarch Initiative: MONDO:0014013
Orphanet: ORPHA411712

Definition

A rare genetic disorder of metabolite absorption or transport with characteristics of persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

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

Therapy

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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    Curated

    • ACMG ACT, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C4 and C5 +/- Other Acylcarnitines, Glutaric Acidemia II (GA-II) (MADD), 2022
    • ACMG Algorithm,
      American College of Medical Genetics and Genomics, Algorithm, Glutaric Acidemia II (GA-II)/ MADD, Riboflavin Metabolism Disorder, Ethylmalonic Encephalopathy: C4 and C5 elevated +/- other elevated acylcarnitines (AC), 2022

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