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MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (MTPD, HADHB)

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
---
2p23.3
G71.3
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)
Symptomscardiac 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