carnitine palmitoyltransferase deficiency type 2

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