TY  - JOUR
TI  - An Altered Mental Status and
Hyperammonemia Attack in an Adolescent Girl:
Carnitine Palmitoyltransferase Type 1a (CPT1a) Deficiency
AB  - Hyperammonemia is a characteristic feature of the urea
cycle defects and organic acidemias but it may also accompany some
other metabolic disorders or hepatic dysfunction. Additionally, some
drugs and various toxins may cause elevated ammonia levels. A girl
patient presented with vomiting and hypoglycemia attack when she was
2.5 years old. Ten years later, when she was 12.5 years old, she was admitted
to the emergency department with severe vomiting attack, and
then loss of consciousness totally. Laboratory investigations revealed
mildly elevated liver enzymes and hyperammonemia. Free carnitine
level was detected very highly elevated in tandem mass analysis. Carnitine
palmitoyltransferase type 1a (CPT1a) deficiency was suggested
in the patient and, molecular genetic analysis showed homozygous
c.364_365dupAT pathogenic variant in the CPT1A gene. High-carbohydrate
diet that is low in fat was commenced. She has no neurological
sequelae. Elevated carnitin levels and hyperamonemia together with
hypoketosis sh.ould be alarming for CPT1a deficiency.
AU  - Gunduz, Mehmet
AU  - Unal, Ozlem
AU  - Küçükçongar Yavaş, Aynur
DO  - 10.5336/pediatr.2020-79899
PY  - 2021
JO  - Türkiye Klinikleri Pediatri Dergisi
VL  - 30
IS  - 2
SN  - 1300-0381
SP  - 165
EP  - 168
DB  - TRDizin
UR  - http://search/yayin/detay/519353
ER  -