Glycogen storage myopathies panel

Glycogen storage myopathies panel

[19 genes]

TOURNAROUND TIME: 6 WEEKS

AGL ENO3 GAA GBE1
GYG1 GYS1 KLHL24 LAMP2
LDHA PFKM PGAM2 PGK1
PGM1 PHKA1 PHKA2 PHKB
PHKG2 PYGM RBCK1
RELATED PHENOTYPES
Pompe disease (type II glycogenosis) GAA
McArdle disease (type V glycogenosis) PYGM
Danon disease LAMP2
Muscle phosphofructokinase deficiency (type VII glycogenosis) PFKM
Polyglucosan body myopathy GYG1 / RBCK1
Glycogen debranching / branching enzyme deficiency AGL / GBE1
Phosphoglycerate mutase deficiency (type X glycogenosis) PGAM2
Phosphoglycerate kinase deficiency PGK1
Congenital disorder of glycosylation type It PGM1
Phosphorylase kinase deficiency (type IX glycogenosis) PHKA1 / PHKA2 / PHKB / PHKG2
Lactate dehydrogenase deficiency (type XI glycogenosis) LDHA
Enolase deficiency type III ENO3
  • 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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