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: | hypoglycemia, hepatomegaly, feeding difficulties, cardiomegaly, hypotonia, coma, seizures, lethargy, encephalopathy, renal tubular acidosis |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | CPT1A |
| Base Change: | G>A, at nucleotide 2129 |
| Amino Acid Change: | gly 710 --> glu |
| Last updated: | 2022-11-03 |
| 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 |
Back