OMIM = Online Medalian Inheritance of Men
  • avoidance of fasting
  • medium-chain triglycerides (MCT)
rare (<1:750000)
autosomal recessive
autosomal dominant
mutation in the carnitine palmitoyltransferase II gene
Three phenotypes of CPT II deficiency:
- lethal neonatal form -> 600649
- severe infantile hepatocardiomuscular form -> 608836
- mild myopathic form (most frequent) -> 255110
Muscle CPT II deficiency is the most frequent type [Lehmann D  et al. 2017]
CPT-1 deficiency can be missed when analysis is performed in plasma, whereas CPT-2 deficiency can be missed when analysis is performed in DBS [de Sain-van der Velden MG 2013]
brown colored urine
cardiac arrhythmia, dysrhythmia
cardiomyopathy, hypertrophic
cardiomyopathy, mixed type
early death
hepatomegaly (large liver)
intracerebral, cortical or paraventricular cysts
lethargy, drowsiness, malaise or sleep disorder
muscle cramps
muscle weakness
onset, adolescent
pain, muscle
polycystic kidneys
renal cysts
renal failure, acute/chronic
laboratory finding
Creatine kinase1000.0011000.0040.00400.00U/lserum
Lactate dehydrogenase (LDH)1000.003000.00110.00210.00U/lserum
Myoglobin100.0025000.00 -Ág/lserum
Myoglobin1000.00250000.00 -Ág/lurine
Long chain acyl carnitines increasedliver, muscle,kidneyno data
Carnitine palmitoyltransferase II 10.00 100.00activity (% of normal)fibroblasts
Ammonia 25.0080.00-Ámol/lblood
Long chain acyl carnitines +€mol/lserum
Dicarboxylic acids0.000.00 mmol/mol creatinineurine
Palmitoylcarnitine (C16) -Ámol/lplasma
Oleoylcarnitine (C18:1) +€mol/lplasma
Stearoylcarnitine (C18) +€mol/lplasma
Linoleoylcarnitine (C18:2) +€mol/lplasma
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