Mitochondrial trifunctional protein deficiency 1

Preferred Label : Mitochondrial trifunctional protein deficiency 1;

Symbol : MTPD1;

CISMeF acronym : MTPD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Trifunctional protein deficiency; MTPD;

Included titles and symbols : Mitochondrial trifunctional protein deficiency 1 with myopathy and neuropathy;

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; 272120), 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 (609016), which is caused by mutation in the HADHA gene.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHA, 600890.0003); Caused by mutation in the beta subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHB, 143450.0001);

Laboratory abnormalities : Hypoketotic hypoglycemia; Decreased activity of long-chain 3-hydroxyacyl-CoA dehydrogenase, long-chain 3-oxoacyl-CoA thiolase, and long-chain 2-enoyl-CoA hydratase; Increased serum acylcarnitines; Hyperammonemia; Myoglobinuria; Abnormal liver enzymes;

Prefixed ID : #609015;

Details

Origin ID

609015;

UMLS CUI

C1969443;

Automatic exact mappings (from CISMeF team)
- Trifunctional protein deficiency [MedDRA Preferred Term]
- mitochondrial trifunctional protein deficiency [DO Concept]
- trifunctional protein deficiency [Artificial nutrition thesaurus concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH concept]
Currated CISMeF NLP mapping
- Mitochondrial Trifunctional Protein Deficiency [NCIt concept]
- Mitochondrial trifunctional protein deficiency [ICD-11 More detail]
- Mitochondrial trifunctional protein deficiency [ORDO Disease]
- Mitochondrial trifunctional protein deficiency (disorder) [SNOMED CT concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH Supplementary Concept]
DO Cross reference
- mitochondrial trifunctional protein deficiency [DO Concept]
Genes related to phenotype
- Hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl-coa hydratase, alpha subunit [OMIM gene]
HPO term(s)
- Abnormality of the amniotic fluid [HPO term]
- Areflexia [HPO term]
- Arrhythmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholestasis [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Early death [HPO term]
- Elevated circulating acylcarnitine concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated liver enzymes [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized muscle weakness [HPO term]
- Global developmental delay [HPO term]
- Hydrops fetalis [HPO term]
- Hyperammonemia [HPO term]
- Hypoketotic hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Lactic acidosis [HPO term]
- Lethargy [HPO term]
- Muscle spasm [HPO term]
- Myalgia [HPO term]
- Myoglobinuria [HPO term]
- Myopathy [HPO term]
- Neonatal onset [HPO term]
- Peripheral neuropathy [HPO term]
- Pigmentary retinopathy [HPO term]
- Prenatal maternal abnormality [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Rhabdomyolysis [HPO term]
- Small for gestational age [HPO term]
ORDO concept(s)
- Mitochondrial trifunctional protein deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Decreased 3-hydroxyacyl-CoA dehydrogenase level [HPO term]
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Mitochondrial Trifunctional Protein Deficiency [NCIt concept]
- Mitochondrial trifunctional protein deficiency [ORDO Disease]
- Mitochondrial trifunctional protein deficiency [ICD-11 More detail]
- Mitochondrial trifunctional protein deficiency (disorder) [SNOMED CT concept]
- Trifunctional protein deficiency [MedDRA Preferred Term]
- mitochondrial trifunctional protein deficiency [DO Concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients