CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II), CPT2, MYOPATHIC, STRESS-INDUCED

Question 1

What is  CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II), CPT2, MYOPATHIC, STRESS-INDUCED?

Accepted Answer

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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Carnitin-Palmitoyltransferase II-Mangel (CPT2)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 255110

Question 4

Which enzymes are involved?

Accepted Answer

Carnitine palmitoyl transferase II (CPT II), inner mitochondrial membrane

Disease	CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II), CPT2, MYOPATHIC, STRESS-INDUCED
Synonym	CPT2 DEFICIENCY, LATE-ONSET, CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET
OMIM	255110 OMIM = Online Mendelian Inheritance of Men
Orphanet	228302
Protein (UniProt)	Carnitine palmitoyl transferase II (CPT II), inner mitochondrial membrane
ExPASy	2.3.1.21
Gene locus	1p32.3
ICD	E71.3
Summary	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]
Laboratory findings	Ammonia normal/inc (blood) Carnitine palmitoyltransferase II dec (fibroblasts) Creatine kinase normal/inc (serum) D-Glucose dec (serum) Dicarboxylic acids inc (urine) Lactate dehydrogenase (LDH) inc (serum) Linoleoylcarnitine (C18:2) inc (plasma) Long chain acyl carnitines inc (muscle) Long chain acyl carnitines inc (liver) Long chain acyl carnitines inc (serum) Long chain acyl carnitines inc (kidney) Myoglobin inc (urine) Myoglobin inc (serum) Oleoylcarnitine (C18:1) inc (plasma) Palmitoylcarnitine (C16) inc (plasma) Stearoylcarnitine (C18) inc (plasma) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	rhabdomyolysis cardiomyopathy coma lethargy, drowsiness, apathy liver involvement or dysfunction polycystic kidneys renal cysts brown colored urine cardiac arrhythmia, dysrhythmia cardiomyopathy, hypertrophic cardiomyopathy, mixed type dysmorphism early death encephalopathy hepatomegaly (large liver) hypoglycemia intracerebral, cortical or paraventricular cysts muscle cramps muscle weakness onset, adolescent pain, muscle pancreatitis renal failure, acute/chronic seizures sweating urine color, abnormal vomiting