Mitochondrial Trifunctional Protein Deficiency; Mtpd

Description

The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Trifunctional Protein Deficiency; Mtpd

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Feeding difficulties
  • Peripheral neuropathy
  • Ventriculomegaly

And another 55 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

Mitochondrial Trifunctional Protein Deficiency; Mtpd Is also known as trifunctional protein deficiency.

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.

Mitochondrial Trifunctional Protein Deficiency; Mtpd 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
67 %
Trifunctional Protein Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis).

By Baylor Miraca Genetics Laboratories (United States).

HADHA, HADHB
Specificity
100 %
Genes
67 %
Trifunctional Protein Deficiency Panel.

By Baylor Miraca Genetics Laboratories (United States).

HADHA, HADHB
Specificity
100 %
Genes
67 %
Trifunctional Protein Deficiency Deletion/Duplication Panel.

By Baylor Miraca Genetics Laboratories (United States).

HADHA, HADHB
Specificity
100 %
Genes
67 %
Trifunctional Protein Deficiency Panel.

By Baylor Miraca Genetics Laboratories (United States).

HADHA, HADHB
Specificity
100 %
Genes
67 %
HADHA Common Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

HADHA
Specificity
100 %
Genes
34 %
HADHA Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HADHA
Specificity
100 %
Genes
34 %
HADHA Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HADHA
Specificity
100 %
Genes
34 %

You can get up to 118 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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