Maternal Riboflavin Deficiency

Description

Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by 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.

Clinical Features

Top most frequent phenotypes and symptoms related to Maternal Riboflavin Deficiency

  • Generalized hypotonia
  • Vomiting
  • Acidosis
  • Photophobia
  • Hypoglycemia
  • Lethargy
  • Lactic acidosis
  • Metabolic acidosis
  • Aciduria
  • Inflammatory abnormality of the skin

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available there are 1 published cases of MATERNAL RIBOFLAVIN DEFICIENCY in Europe.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Maternal Riboflavin Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Fatty acid metabolism/ketogenesis disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

SLC22A5, SLC25A20, SLC52A3, ACAD9, CPT1A, CPT1B, CPT2, SLC52A2, SLC52A1, ETFA, ETFB, ETFDH, HADH, HADHA, HADHB, HMGCL, HMGCS2, ACADM, ACADVL
Specificity
6 %
Genes
100 %
Fatty acid metabolism/ketogenesis disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

SLC22A5, SLC25A20, SLC52A3, ACAD9, CPT1A, CPT1B, CPT2, SLC52A2, SLC52A1, ETFA, ETFB, ETFDH, HADH, HADHA, HADHB, HMGCL, HMGCS2, ACADM, ACADVL
Specificity
6 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
Riboflavin deficiency.

By Centogene AG - the Rare Disease Company (Germany).

SLC52A1
Specificity
100 %
Genes
100 %
Invitae Elevated C4 and C5 Panel.

By Invitae (United States).

SLC52A3, ETHE1, SLC52A2, SLC52A1, ETFA, ETFB, ETFDH
Specificity
15 %
Genes
100 %
SLC52A1.

By Fulgent Genetics Fulgent Genetics (United States).

SLC52A1
Specificity
100 %
Genes
100 %
RIBOFLAVIN DEFICIENCY.

By Laboratorio de Genetica Clinica SL (Spain).

SLC52A1
Specificity
100 %
Genes
100 %

We have 1 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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