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Antenatal presentation of carnitine palmitoyltransferase II deficiency
O N Elpeleg1, C Hammerman, A Saada
1Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel. elpeleg@szmc.org.il
Insights
Carnitine palmitoyl transferase II deficiency can present antenatally, unlike the typical pubertal onset. Genetic testing is crucial for Ashkenazi Jewish individuals with CPTII deficiency due to a severe mutation.
Area of Science:
- Biochemistry
- Genetics
- Neonatal Medicine
Background:
- Carnitine palmitoyl transferase II (CPTII) deficiency typically presents in adolescence with exercise-induced myoglobinuria.
- This condition affects fatty acid metabolism, crucial for energy production.
Observation:
- Two Ashkenazi Jewish siblings presented with a rare antenatal form of CPTII deficiency.
- Antenatal ultrasound revealed periventricular calcifications and enlarged kidneys by the fifth gestational month.
Findings:
- Lymphocyte CPTII activity was undetectable in both affected siblings.
- Both siblings were homozygous for the specific 1237delAG mutation, confirming the genetic cause.
Implications:
- Homozygosity for the 1237delAG mutation has severe consequences, necessitating early diagnosis.
- Genotype determination is recommended for all Ashkenazi patients diagnosed with the adolescent form of CPTII deficiency to identify potential antenatal cases.
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.