lethal congenital glycogen storage disease of heart

Lethal Congenital Glycogen Storage Disease of Heart: A Rare and Fatal Condition

Lethal congenital glycogen storage disease of the heart is a rare and severe condition that affects babies shortly after birth. It is characterized by severe cardiomyopathy, non-lysosomal glycogen accumulation, and fatal outcome in infancy.

Clinical Features:

• Severe cardiomegaly (enlarged heart)
• Severe cardiac and respiratory complications
• Failure to thrive
• Non-specific facial dysmorphism (facial abnormalities)
• Bilateral cataracts
• Macroglossia (enlarged tongue)
• Hydrocephalus (fluid accumulation in the brain)
• Enlarged kidneys
• Skeletal muscle problems

Causes and Inheritance:

Lethal congenital glycogen storage disease of the heart is caused by heterozygous mutations in the PRKAG2 gene, which encodes the non-catalytic gamma-2 subunit of AMP-activated protein kinase. This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disease.

Prognosis:

Unfortunately, lethal congenital glycogen storage disease of the heart is almost always fatal, with babies typically dying shortly after birth due to severe cardiac and respiratory complications.

References:

• [1] Clinical Features
• [4] Integrated disease information for Glycogen Storage Disease of Heart, Lethal Congenital
• [5] A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in ...
• [9] Disease Ontology Definition:A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, ...
• [11] Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease is a rare disease that affects babies before or after birth.
• [15] Title: Lethal congenital glycogen storage disease of heart Definition: A rare glycogen storage disease with fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy.

Lethal congenital glycogen storage disease of the heart, also known as PRKAG2-related cardiomyopathy, is a severe and life-threatening condition that affects the heart muscle.

Symptoms:

• Severe muscle weakness [6]
• Enlarged liver
• Enlarged heart due to cardiomyopathy [9]

These symptoms can develop before birth or shortly after birth, making it a fatal perinatal neuromuscular type of glycogen storage disease IV (GSD IV) [2][7].

Clinical Features:

• Abnormality of head or neck
• Macroglossia (enlarged tongue)
• Abnormality of metabolism/homeostasis
• Anasarca (swelling due to fluid accumulation)
• Abnormality of prenatal development or birth [4]

It's essential to note that this condition is caused by genetic variants in the PRKAG2 gene, making it a congenital disorder [5].

Based on the available information, it appears that specific genetic testing is available for diagnosing most types of glycogen storage diseases, including lethal congenital glycogen storage disease of the heart.

• Genetic Testing: Specific genetic testing is available for diagnosing most types of GSD, including PRKAG2 gene mutations [3].
• Muscle or Liver Biopsy: A muscle or liver biopsy may be performed to confirm the diagnosis in some cases [3].
• Diagnostic Tests: Diagnostic tests are available for glycogen storage disease of heart, lethal congenital, as mentioned in a medical resource [6].

It's worth noting that genetic testing is designed to detect heritable germline variants and should not be used for detecting somatic variants in tumor tissue [5]. Additionally, Quest Diagnostics Incorporated offers various diagnostic services, including genetic testing, but it's essential to consult with a healthcare provider for accurate diagnosis and treatment [10].

In summary, specific genetic testing is available for diagnosing lethal congenital glycogen storage disease of the heart, along with other diagnostic tests such as muscle or liver biopsy. However, it's crucial to consult with a healthcare provider for accurate diagnosis and treatment.

References: [3] - A rare glycogen storage disease with fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. [5] - Oct 30, 2021 — This test is designed to detect heritable germline variants and should not be used for the detection of somatic variants in tumor tissue. [6] - A rare glycogen storage disease characterized by ... Fatal congenital hypertrophic cardiomyopathy due to glycogenosis ... Diagnostic tests (88) · Patient ... [10] - Quest® is the brand name used for services offered by Quest Diagnostics Incorporated and its affiliated companies.

Current Treatment Options

Unfortunately, there are currently no specific treatment options available for PRKAG2-related Lethal Congenital Glycogen Storage Disease of the Heart (LCGSDH) [7]. This is a rare and severe form of glycogen storage disease that affects the heart and has a fatal outcome in affected individuals.

Research and Ongoing Studies

However, research is ongoing to explore potential treatment options for LCGSDH. One area of interest is enzyme replacement therapy (ERT), which has shown promise in treating other forms of glycogen storage diseases [1]. ERT involves administering enzymes that can break down glycogen, thereby reducing its accumulation in the body.

Other Therapeutic Approaches

In addition to ERT, other therapeutic approaches are being explored for LCGSDH. These include pharmacological interventions, physical and supportive therapies, and organ transplantation [2].

Importance of Early Diagnosis

Early diagnosis is crucial for individuals with LCGSDH, as it can help identify those who may benefit from experimental treatments or participate in clinical trials.

Current Research Focus

Research focus is on understanding the molecular mechanisms underlying LCGSDH and identifying potential therapeutic targets. This knowledge will be essential for developing effective treatment strategies for this devastating disease.

References:

[1] Some GSDs (like GSD type II) can be treated with enzyme replacement therapy (ERT). This is usually an IV infusion. There's ongoing research on using ERT with ...

[2] by E Gümüş · 2023 · Cited by 23 — In addition to nutritional interventions, pharmacological treatment, physical and supportive therapies, enzyme replacement therapy (ERT) and organ ...

[7] by AM White‐Brown · Cited by 2 — To our knowledge, there are currently no specific treatment options for PRKAG2-related LCGSDH. Importantly, enzymatic replacement therapy is ...

The differential diagnosis for lethal congenital glycogen storage disease of heart involves considering other conditions that can cause similar symptoms and characteristics.

According to the search results, the differential diagnosis for this condition includes:

• Other glycogen storage disorders [10]
• Mitochondrial DNA depletion [10]

Additionally, the clinical features of GSD-Ia, such as hypoglycemia, lactic acidosis, hypercholesterolemia, and hepatomegaly, should also be considered in the differential diagnosis [11].

It's worth noting that infants with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone (severe hypotonia) and muscle wasting (atrophy), which can also be present in other conditions [12].

Glycogen storage diseases are a group of rare inherited conditions that can cause frequent low blood sugar, muscle weakness, and liver damage [13]. Therefore, these conditions should also be considered in the differential diagnosis.

Fatal congenital nonlysosomal cardiac glycogenosis has been attributed to a subtype of phosphorylase kinase deficiency, but the underlying genes and mechanisms are not fully understood [15].

References:

[10] The differential diagnosis for lethal congenital glycogen storage disease of heart includes other glycogen storage disorders. [11] GSD-Ia clinical features should be considered in the differential diagnosis. [12] Infants with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone and muscle wasting. [13] Glycogen storage diseases are a group of rare inherited conditions that can cause frequent low blood sugar, muscle weakness, and liver damage. [15] Fatal congenital nonlysosomal cardiac glycogenosis has been attributed to a subtype of phosphorylase kinase deficiency.