Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.3.1.21 (
CPT
)
4,580
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Exercise intolerance
with slight myalgia worsened by a cold environment resulted in the diagnosis of
CPT
deficiency in a young boy with no family history. Recurrent myoglobinuria is not the hallmark of such a deficit. Biochemical examination of muscle biopsy in suggestive situations is the way to diagnosis. Concomitant myoadenylate deficiency in this patient could represent a precipitating factor. Partial
CPT
deficiency in all the patients reported was first explained through the mechanism of intra mitochondrial fatty acid transport but raises questions about the regulation of
CPT
synthesis.
...
PMID:[Intolerance to exercise caused by carnitine palmitoyltransferase deficiency]. 218 87
Exercise intolerance
, sometimes complicated by rhabdomyolysis is a frequent complaint of patients consulting in neuromuscular centers. It may be the main clinical manifestation of many metabolic myopathies and muscular dystrophies. The first step of diagnosis relies on the performance of in vivo metabolism investigations: forearm or bicycle ergometer exercise tests, phosphorus nuclear magnetic resonance spectroscopy. A few enzymatic defects may be directly assessed on blood samplings, in particular
carnitine palmitoyltransferase
deficiency; but muscle biopsy is necessary in most cases in order to precise the etiology. When CK levels are elevated at rest, a muscle CT scan should be performed in order to detect muscles fatty replacement suggestive of a muscular dystrophy; this diagnosis will be confirmed with immunohistochemical and western-blot analysis of muscle proteins. We present a description of the main metabolic myopathies manifesting by exercise intolerance with an overview of clinical and laboratory evaluation leading to diagnosis. Differential diagnosis are also discussed.
...
PMID:[Exercise-intolerance and exercise-induced rhabdomyolisis: etiology and diagnosis]. 1503 80
