carnitine palmitoyltransferase deficiency type 2
MIM.608836 1p32
Variants
lethal neonatal CPTD2 (MIM.608836)
infantile CPTD2 (MIM.600649)
adult-onset CPTD2 (MIM.255100)
Lethal neonatal CPTD2 - Synopsis
lethal multiorgan deficiency of carnitine palmitoyltransferase II (CPT II)
dysmorphic features
cardiomyopathy
cystic dysplasia of the brain
multicystic renal dysplasia (7658272)
diffuse tissular lipid accumulation
Biology
Concentrations of long-chain acylcarnitines
profound deficiency of CPT II activity was evident in heart, liver, muscle, and kidney tissue
Differential diagnosis
(cystic renal dysplasia, dysmorphism, central nervous system malformations, early death, )
Zellweger syndrome
multiple acyl-CoA dehydrogenation deficiency (MADD) (glutaric acidemia type 2)
peroxisomal beta-oxidation disorders
disruptions of beta-oxidation of fatty acids
References
Sigauke E, Rakheja D, Kitson K, Bennett MJ. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest. 2003 Nov;83(11):1543-54. PMID: 14615409
North KN, Hoppel CL, De Girolami U, Kozakewich HP, Korson MS. Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J Pediatr. 1995 Sep;127(3):414-20. PMID: 7658272