Methylmalonic Acidemia With Homocystinuria, Type Cbld

Description

cblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.

Clinical Features

Top most frequent phenotypes and symptoms related to Methylmalonic Acidemia With Homocystinuria, Type Cbld

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Gait disturbance
  • Fatigue
  • Behavioral abnormality
  • Pallor
  • Lethargy
  • Abnormality of movement

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Methylmalonic Acidemia With Homocystinuria, Type Cbld Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cbld, methylmalonic aciduria with homocystinuria, type cbld, cbld defect, cobalamin d defect.

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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Methylmalonic Acidemia With Homocystinuria, Type Cbld 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 %
MMADHC Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MMADHC
Specificity
100 %
Genes
100 %
MMADHC Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MMADHC
Specificity
100 %
Genes
100 %
MMADHC Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MMADHC
Specificity
100 %
Genes
100 %
MMADHC Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

MMADHC
Specificity
100 %
Genes
100 %
Cobalamin Metabolism Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

TCN2, MMAA, MMAB, LMBRD1, MMACHC, MMADHC, MTR, MTRR, MMUT
Specificity
12 %
Genes
100 %
Cobalamin D Deficiency - MMADHC Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

MMADHC
Specificity
100 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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