Amish, Mennonite, and Hutterite
Genetic Disorder Database

Carnitine Palmitoyltransferase I Deficiency

Disorder
OMIM #: #255120  (Click to access OMIM database)
Disorder: Carnitine Palmitoyltransferase I Deficiency 
Also known as: CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY, CPT I DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE I 
Clinical
Phenotype: Onset is in infancy or early childhood; hypoglycemia, hepatomegaly, feeding difficulties, cardiomegaly, hypotonicity, coma, seizures, lethargy, encephalopathy 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: CPT1A
Base Change: G>A, at nucleotide 2129
Amino Acid Change: gly 710 --> glu
Last updated: 2007-08-10 

References
Haworth JC, Coates PM, Demaugre F, Dilling LA, Seargeant LE, Moroz SP, Booth FA, and Seshia SS. (1991) Hepatic carnitine palmityltransferase (CPT 1) deficiency: 3 patients in a Hutterite family. (Abstract) Pediat Res 29: 130A.  
Haworth JC, Demaugre F, Booth FA, Dilling LA, Moroz SP, Seshia SS, Seargeant LE, and Coates PM. (1992) Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family. J Pediatr 121(4): 553-7.
PubMed ID: 1403388 
Prip-Buus C, Thuillier L, Abadi N, Prasad C, Dilling L, Klasing J, Demaugre F, Greenberg CR, Haworth JC, Droin V, Kadhom N, Gobin S, Kamoun P, Girard J, and Bonnefont JP. (2001) Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community. Mol Genet Metab 73(1): 46-54.
PubMed ID: 11350182 

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