Fatty Acid Oxidation Disorders
|Disease Name||Carnitine palmitoyl transferase deficiency, type 1A (liver)|
|Alternate name(s)||CPT1 deficiency, CPT1 liver|
|Disease Classification||Fatty Acid Oxidation Disorder|
Carnitine palmitoyl transferase deficiency, type 1B - muscle type
|Symptoms||Hypoketotic hypoglycemia, hepatomegaly, hyperammonemia,
renal tubular acidosis.
|Natural history without treatment||Possible developmental delay due to hypoglycemic episode, seizures, coma and death may occur.|
|Natural history with treatment||Attacks seem to get less frequent and less severe with age. Treatment cannot reverse developmental delay (if present).|
|Treatment|| Avoidance of fasting, IV glucose during illnesses, dietary
reduction of long chain fatty acids, dietary supplementation
with medium chain fatty acids, cornstarch supplementation.
|Other||Maternal complications in pregnancy including acute fatty
liver of pregnancy and pre-eclampsia have been reported but
may be coincidental.
|General population incidence||Rare|
|Enzyme location||Liver, kidney, fibroblasts and heart|
|Enzyme Function||Transfer long chain fatty acids into mitochondria|
|Missing Enzyme||Carnitine palmitoyl transferase 1A|
|Metabolite changes||Elevated plasma carnitine level, absence of dicarboxylic
aciduria, elevated CPK (possible).
|DNA testing available||May be available on a research basis.|
|DNA testing detail||If a mutation in a proband is detected, DNA carrier screening
|Prenatal testing|| Protein analysis in CVS and amniocytes. If a mutation in a
proband is detected, DNA prenatal diagnosis via CVS &
amniocytes is possible..
|MS/MS Profile||Absence of long and medium chain acyl carnitines|
FOD Family Support Group