Abstract
A 45-year-old male patient had an episode of acute renal failure with myoglobinuria, myalgias, weakness, and markedly increased serum CK levels. Similar episodes had occurred in the past. Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically. Interestingly, muscle biopsy also showed some ragged red fibers (RRF) and complete mitochondrial DNA (mtDNA) sequence disclosed a homoplasmic T3394C point mutation. This mutation is described in Leber's hereditary optic neuropathy (LHON) or in patients with diabetes mellitus.
| Original language | English |
|---|---|
| Pages (from-to) | 21-24 |
| Number of pages | 4 |
| Journal | Journal of the Neurological Sciences |
| Volume | 239 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Dec 15 2005 |
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Keywords
- CPT deficiency
- Mitochondrial disorder
- Myoglobinuria
- RRFs
ASJC Scopus subject areas
- Ageing
- Clinical Neurology
- Surgery
- Neuroscience(all)
- Developmental Neuroscience
- Neurology
Cite this
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy. / Sciacco, Monica; Prelle, Alessandro; Fagiolari, Gigliola; Bordoni, Andreina; Crimi, Marco; Di Fonzo, Alessio; Ciscato, Patrizia; Lamperti, Costanza; D'Adda, Elisabetta; Jann, Stefano; Bresolin, Nereo; Comi, Giacomo P.; Moggio, Maurizio.
In: Journal of the Neurological Sciences, Vol. 239, No. 1, 15.12.2005, p. 21-24.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy
AU - Sciacco, Monica
AU - Prelle, Alessandro
AU - Fagiolari, Gigliola
AU - Bordoni, Andreina
AU - Crimi, Marco
AU - Di Fonzo, Alessio
AU - Ciscato, Patrizia
AU - Lamperti, Costanza
AU - D'Adda, Elisabetta
AU - Jann, Stefano
AU - Bresolin, Nereo
AU - Comi, Giacomo P.
AU - Moggio, Maurizio
PY - 2005/12/15
Y1 - 2005/12/15
N2 - A 45-year-old male patient had an episode of acute renal failure with myoglobinuria, myalgias, weakness, and markedly increased serum CK levels. Similar episodes had occurred in the past. Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically. Interestingly, muscle biopsy also showed some ragged red fibers (RRF) and complete mitochondrial DNA (mtDNA) sequence disclosed a homoplasmic T3394C point mutation. This mutation is described in Leber's hereditary optic neuropathy (LHON) or in patients with diabetes mellitus.
AB - A 45-year-old male patient had an episode of acute renal failure with myoglobinuria, myalgias, weakness, and markedly increased serum CK levels. Similar episodes had occurred in the past. Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically. Interestingly, muscle biopsy also showed some ragged red fibers (RRF) and complete mitochondrial DNA (mtDNA) sequence disclosed a homoplasmic T3394C point mutation. This mutation is described in Leber's hereditary optic neuropathy (LHON) or in patients with diabetes mellitus.
KW - CPT deficiency
KW - Mitochondrial disorder
KW - Myoglobinuria
KW - RRFs
UR - http://www.scopus.com/inward/record.url?scp=27744446374&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=27744446374&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2005.07.008
DO - 10.1016/j.jns.2005.07.008
M3 - Article
C2 - 16168441
AN - SCOPUS:27744446374
VL - 239
SP - 21
EP - 24
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1
ER -