Vitamin B12-unresponsive Methylmalonic Acidemia Type Mut-

Description

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

Clinical Features

Top most frequent phenotypes and symptoms related to Vitamin B12-unresponsive Methylmalonic Acidemia Type Mut-

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Anemia
  • Feeding difficulties
  • Hepatomegaly
  • Dysarthria
  • Optic atrophy

And another 19 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Vitamin B12-unresponsive Methylmalonic Acidemia Type Mut- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-, partial deficiency of methylmalonyl-coa mutase.

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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Vitamin B12-unresponsive Methylmalonic Acidemia Type Mut- Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
MUT Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

MMUT
Specificity
100 %
Genes
100 %
Methylmalonic Acidemia Deletion/Duplication Panel.

By Baylor Miraca Genetics Laboratories (United States).

MMAA, MMAB, MMUT
Specificity
34 %
Genes
100 %
Methylmalonic Acidemia Comprehensive Panel (Sequencing and Deletion/Duplication Analysis).

By Baylor Miraca Genetics Laboratories (United States).

MMAA, MMAB, MMUT
Specificity
34 %
Genes
100 %
Methylmalonic Acidemia Panel Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MMAA, MMAB, MMUT
Specificity
34 %
Genes
100 %
MUT Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MMUT
Specificity
100 %
Genes
100 %
MUT Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MMUT
Specificity
100 %
Genes
100 %
MUT Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MMUT
Specificity
100 %
Genes
100 %

We have 74 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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