MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (MTPD, HADHA)

Question 1

What is  MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (MTPD, HADHA)?

Accepted Answer

rare
autosomal recessive
mutation in the alpha subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHA)
mutation in the beta subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHB)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Defekt des mitochondrialen trifunktionalen Proteins

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 609015

Question 4

Which enzymes are involved?

Accepted Answer

Trifunctional enzyme subunit alpha, mitochondrial

Disease	MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (MTPD, HADHA)
Synonym	HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA
OMIM	609015 OMIM = Online Mendelian Inheritance of Men
Orphanet	746
Protein (UniProt)	Trifunctional enzyme subunit alpha, mitochondrial
ExPASy	---
Gene locus	2p23.3
ICD	G71.3
Summary	rare autosomal recessive mutation in the alpha subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHA) mutation in the beta subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHB)
Laboratory findings	2-Enoyl-CoA hydratase dec (fibroblasts) 3-Hydroxydicarboxylic acid inc (urine) 3-Hydroxysuberic acid inc (urine) 3-Oxoacyl-CoA thiolase dec (fibroblasts) Ammonia normal/inc (blood) Creatine kinase inc (serum) D-Glucose dec (blood) Dicarboxylic acids normal/inc (urine) L-Carnitine normal/dec (plasma) L-Lactic acid normal/inc (serum) Long-chain 3-hydroxyacyl-CoA dehydrogenase dec (fibroblasts) Quick dec (blood) Transaminases (ASAT/ALAT) normal/inc (plasma)
Symptoms	cardiac arrhythmia, dysrhythmia myopathy peripheral neuropathy cardiomyopathy cardiomyopathy, dilated coma intrauterine growth retardation lactic acidosis lethargy, drowsiness, apathy liver involvement or dysfunction retinitis pigmentosa retinopathy cardiac involvement, cardiac defects dyspnea early death early death failure to thrive heart failure, cardiac failure HELLP syndrome hydrops fetalis hyperammonemia hypoglycemia hypotonia liver failure muscle weakness onset, neonatal Organic acids, urine pain, muscle psychomotor retardation respiratory distress respiratory insufficiency rhabdomyolysis small for gestational age (SGA), intrauterine growth retardation (IUGR) steatorrhea tachypnea, hyperpnea, dyspnea, hyperventilation