SCIENTIFIC BACKGROUND

ACADVL, AGK, DGUOK, ETFA, ETFB, ETFDH, HADHA, HADHB, INIP, POLG, RRM2B, SUCLA2, SUCLG1, TK2, TWNK, TYMP

Category:

Scientific Background

Metabolic myopathies affect the metabolism of carbohydrates, in particular glucose and fats, which are the two main energy sources of skeletal muscles. The disorders include disturbances in glycolysis and glycogen degradation, ß-oxidation of fatty acids, and respiratory chain defects. The clinical symptoms of this heterogeneous group of diseases are variable and include muscle hypotonia, muscle weakness, stiffness and/or cramps, or acute rhabdomyolysis. Triggers and age of manifestation vary. Neonates usually show hypotonia and multisystemic involvement (liver and brain), while late manifesting forms often involve exercise intolerance, hyperCKemia, myoglobinuria, and may be with or without progressive muscle weakness.

 

Incidence and prevalence are still largely unknown, although mitochondrial disorders are the most common cause of metabolic myopathies with a prevalence of 1:8,000. The most common glycogenoses include Pompe disease at 1:40,000 and McArdle disease at 1:100,000. Carnitine palmitoyl transferase 2 (CPT 2) deficiency represents the most common lipid storage disease at 1:300,000.

 

Differential diagnoses include other genetic and acquired disorders; therefore, a broad diagnostic approach is required. Gene panel diagnostics can contribute to accurate classification.

 

References

Lilleker et al. 2018 Pract Neurol 18:14 / Angelini 2015, Biochim Biophys Acta 1852:615 / Olpin 2015, J Clin Pathol 68:410

GENES

ACADVL, AGK, DGUOK, ETFA, ETFB, ETFDH, HADHA, HADHB, INIP, POLG, RRM2B, SUCLA2, SUCLG1, TK2, TWNK, TYMP
How to order

LATEST ARTICLES

Overview In January 2024, the American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology (SSO) published new recommendation...

Read more

Endometriosis is a chronic gynecological condition that affects 1 in 10 women of reproductive age worldwide [1]. It can manifest with the first menst...

Read more

Rare Disease Day is a global awareness day held annually to raise awareness of all rare diseases. It was first celebrated in 2008, on the rarest day ...

Read more

Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Follo...

Read more

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more

Aneuploidies, such as translocations, whole or segmental chromosomal duplications, and deletions, are examples of chromosomal abnormalities that are ...

Read more