CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (I); CPT1

Q: Gibt es eine deutsche Bezeichnung?

Carnitin-Palmitoyl-Transferase IA-Mangel (CPT1)

Q: Which enzymes are involved?

Carnitine O-palmitoyltransferase 1, liver isoform

Question 1

What is  CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (I); CPT1?

Accepted Answer

rare (<1:750000)
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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Carnitin-Palmitoyl-Transferase IA-Mangel (CPT1)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 255120

Question 4

Which enzymes are involved?

Accepted Answer

Carnitine O-palmitoyltransferase 1, liver isoform

Disease	CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (I); CPT1
Synonym	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
OMIM	255120 OMIM = Online Mendelian Inheritance of Men
Orphanet	156
Protein (UniProt)	Carnitine O-palmitoyltransferase 1, liver isoform
ExPASy	2.3.1.21
Gene locus	11q13.3
ICD	E71.3
Summary	rare (<1:750000) 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]
Laboratory findings	Adipic acid normal/inc (urine) D-Glucose dec (serum) Dicarboxylic acids normal/inc (urine) Long chain acyl carnitines dec (plasma) Palmitoylcarnitine (C16) dec (blood) Sebacic acid normal/inc (urine) Stearoylcarnitine (C18) dec (blood) Suberic acid (urine) Transaminases (ASAT/ALAT) n/i (serum) Ammonia inc (blood) Carnitine palmitoyltransferase I dec (fibroblasts) Carnitine palmitoyltransferase I dec (leucocytes) Creatine kinase inc (serum) L-Carnitine normal/inc (plasma) Lactate dehydrogenase (LDH) inc (serum)
Symptoms	cardiomegaly encephalopathy hepatomegaly (large liver) hypoketotic hypoglycemia hypotonia liver involvement or dysfunction renal tubular acidosis seizures vomiting cholestasis coma diarrhea HELLP syndrome hyperammonemia hypoglycemia jaundice liver failure maternal acute fatty liver of pregnancy mental retardation muscle cramps muscle weakness nephromegaly onset, adolescent onset, childhood onset, infancy splenomegaly (large spleen)