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Summary
CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (I)
HYPOGLYCEMIA, HYPOKETOTIC, WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE I, CPT1
255120
OMIM = Online Medalian Inheritance of Men
156
11q13.3
  • avoidance of fasting
  • cornstarch, uncooked
  • medium-chain triglycerides (MCT)
rare
autosomal recessive
recurrent attacks of fasting hypoketotic hypoglycemia, normal or high serum carnitine
CPT-1 deficiency can be missed when analysis is performed in plasma,
whereas CPT-2 deficiency can be missed when analysis is performed in DBS [de
Sain-van der Velden MG
2013]
symptoms
coma
diarrhea
encephalopathy
HELLP syndrome
hepatomegaly (large liver)
hyperammonemia
hypoglycemia
hypotonia
liver failure
maternal acute fatty liver of pregnancy
mental retardation
muscle cramps
muscle weakness
onset, child
onset, infant
renal tubular acidosis
seizures
vomiting
laboratory finding
Lactate dehydrogenase (LDH)1000.003000.00110.00210.00U/lserum
Creatine kinase1000.0011000.0040.00400.00U/lserum
Glucose0.503.002.805.00mmol/lserum
Carnitine palmitoyltransferase I 100.00decreased activityfibroblasts
Carnitine palmitoyltransferase I 100.00decreased activityleucocytes
Carnitine 15.0040.00normal/increasedplasma
Ammonia increasedblood
Long chain acyl carnitines decreasedplasma
Palmitoylcarnitine (C16) decreasedblood
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