Lipid storage myopathies panel

Lipid storage myopathies panel

[15 genes]

TOURNAROUND TIME: 6 WEEKS

ABHD5 ACADM ACADS ACADVL
AMPD1 CAVIN1 (PTRF) CPT2 ETFA
ETFB ETFDH FLAD1 LPIN1
PNPLA2 SLC22A5 SLC25A20
RELATED PHENOTYPES
Short-chain / Medium-chain / Very long-chain acyl-CoA dehydrogenase deficiency ACADS / ACADM / ACADVL
Myoadenylate deaminase deficiency myopathy AMPD1
Carnitine palmitoyltransferase II deficiency CPT2
Glutaric aciduria type 2 ETFA / ETFB / ETFDH
Flavin adenine dinucleotide synthetase deficiency myopathy FLAD1
Recurrent myoglobinuria LPIN1
Neutral lipid storage disease with myopathy PNPLA2
Congenital lipodystrophy type 4 CAVIN1 (PTRF)
Primary carnitine deficiency SLC22A5
Carnitine-acylcarnitine translocase deficiency SLC25A20
Chanarin-Dorfman syndrome ABHD5
  • Metabolic myopathies are a group of inherited muscular disorders secondary to enzymatic defects affecting metabolism and energy production in muscle. Some of them are considered inherited metabolic diseases and, although they are rare causes of myopathy, their diagnostic relevance lies in the fact that some of them are potentially treatable.

    Their symptomatology can mimic other forms of muscular dystrophy or inflammatory myopathies, and they often manifest with subtle symptoms such as asymptomatic CK elevation, muscle cramps,

    myalgia, or myoglobinuria. Their prevalence is unknown: Pompe disease (acid maltase deficiency) affects 1/40 000 people, and McArdle disease 1/100 000 people.

    Its etiopathogenesis is related to problems in the metabolism of glycogen, lipids or in mitochondrial oxidative phosphorylation. Therefore, we have designed three specific panels for each metabolic pathway and a comprehensive panel that includes the most relevant genes involved in this type of diseases.

    REFERENCES
    1. Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010; 10:118.
    2. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol 2000; 22:87.
    3. van Adel BA, Tarnopolsky MA. Metabolic myopathies: update 2009. J Clin Neuromuscul Dis 2009; 10:97.

 

NEUROLOGY PORTFOLIO


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VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

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