title: Antenatal presentation of carnitine palmitoyltransferase II deficiency.
abstract: Carnitine palmitoyl transferase (CPT) II deficiency is usually manifested around puberty by exercise induced myoglobinuria. Two Ashkenazi Jewish sibs with the rare antenatal form of CPTII deficiency are reported. On the 5th gestational month periventricular calcifications and markedly enlarged kidneys were found in both of them. The activity of CPTII in lymphocytes was undetectable and both sibs were homozygous for the 1237delAG mutation. Because of the serious consequences of homozygosity for this mutation, genotype determination of all Ashkenazi patients with the adolescent form of CPTII deficiency is warranted.
authors.affiliation: Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel. elpeleg@szmc.org.il
authors.forename: O N
authors.initials: ON
authors.lastname: Elpeleg
authors.forename: C
authors.initials: C
authors.lastname: Hammerman
authors.forename: A
authors.initials: A
authors.lastname: Saada
authors.forename: A
authors.initials: A
authors.lastname: Shaag
authors.forename: E
authors.initials: E
authors.lastname: Golzand
authors.forename: D
authors.initials: D
authors.lastname: Hochner-Celnikier
authors.forename: I
authors.initials: I
authors.lastname: Berger
authors.forename: M
authors.initials: M
authors.lastname: Nadjari
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D002114:Calcinosis / Q000473:pathology; D002334:Carnitine O-Palmitoyltransferase / Q000187:drug effects* / Q000235:genetics; D002552:Cerebral Ventricles / Q000473:pathology; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005333:Fetus; D006801:Humans; D007585:Jews; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004247:DNA; D002334:Carnitine O-Palmitoyltransferase