| MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (MTPD, HADHB) | |
| HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, BETA SUBUNIT | |
|
609015
OMIM = Online Mendelian Inheritance of Men | |
|
746 | |
| Trifunctional enzyme subunit beta, mitochondrial | |
| --- | |
| 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 | 3-Hydroxy-Tetradecenoylcarnitine (C14:1-OH) n/i (plasma) 3-Hydroxyadipic acid n/i (urine) 3-Hydroxydicarboxylic acid inc (urine) 3-Hydroxyoleoylcarnitine (C18:1-OH) n/i (plasma) 3-Hydroxypalmitoylcarnitine (C16-OH) n/i (plasma) 3-Hydroxysebacic acid n/i (urine) 3-Hydroxystearoylcarnitine (C18-OH) n/i (plasma) 3-Hydroxysuberic acid n/i (urine) Adipic acid n/i (urine) Ammonia inc (blood) Creatine kinase n/i (serum) D-Glucose n/d (plasma) Dicarboxylic acids n/i (urine) Ketone bodies (urine) n/d (urine) L-Carnitine n/d (plasma) Palmitoylcarnitine (C16) n/i (plasma) Quick dec (blood) Sebacic acid n/i (urine) Suberic acid n/i (urine) Tetradecenoylcarnitine (C14:1) n/i (plasma) Transaminases (ASAT/ALAT) n/i (serum) |
| Symptoms | cardiac arrhythmia, dysrhythmia HELLP syndrome lactic acidosis lethargy, drowsiness, apathy peripheral neuropathy cardiac involvement, cardiac defects cardiomyopathy cardiomyopathy, dilated coma hyperammonemia hypoglycemia intrauterine growth retardation liver involvement or dysfunction myopathy retinitis pigmentosa retinopathy dyspnea failure to thrive heart failure, cardiac failure hydrops fetalis hypotonia muscle weakness onset, infancy onset, neonatal pain, muscle rhabdomyolysis small for gestational age (SGA), intrauterine growth retardation (IUGR) steatorrhea tachypnea, hyperpnea, dyspnea, hyperventilation |