dimethylglycine dehydrogenase deficiency

Dimethylglycine dehydrogenase deficiency, also known as DMGDHD, is a rare autosomal recessive glycine metabolism disorder.

Characteristics and Symptoms

• Muscle fatigue: The condition is characterized by muscle fatigue, which can be chronic and debilitating.
• Fish-like odor: Individuals with DMGDHD often have a distinctive fish-like body odor due to the accumulation of N,N-dimethylglycine (DMG) in their serum and urine.
• Elevated levels of DMG: The condition is also associated with increased levels of DMG in the blood and urine.

Genetic Basis

• Inherited disorder: DMGDHD is an autosomal recessive disorder, meaning that it is inherited from both parents in a recessive pattern.
• Mutation in the DMGD gene: A mutation in the DMGD gene, which codes for the enzyme dimethylglycine dehydrogenase, causes the condition.

Other Information

• The enzyme dimethylglycine dehydrogenase is found in the mitochondrial matrix and uses flavin adenine dinucleotide and folate as cofactors.
• A single reported case of DMGDHD has been documented to date.

References:

[3] Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. [4] Dimethylglycine dehydrogenase deficiency (DMGDHD) is an inborn error of metabolism characterized by a fish-like odor, chronic fatigue, and increased level... [6] Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle... [7] Summary. Dimethylglycine dehydrogenase deficiency (DMGDHD) is an inborn error of metabolism characterized by a fish-like odor, chronic fatigue, and increased...

Dimethylglycine Dehydrogenase Deficiency: A Rare Autosomal Recessive Glycine Metabolism Disorder

Dimethylglycine dehydrogenase deficiency is a rare autosomal recessive glycine metabolism disorder characterized by a distinct set of clinical features. According to the Human Phenotype Ontology (HPO), the phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the HPO.

Clinical Features

The clinical signs and symptoms observed in dimethylglycine dehydrogenase deficiency include:

• Fish-like odor: A distinctive fish-like odor has been reported in patients with this condition [5].
• Chronic fatigue: Patients often experience chronic fatigue, which can be a significant symptom of the disease [5].
• Increased level of creatine kinase: An increased level of the muscle form of creatine kinase in serum is also observed in patients with dimethylglycine dehydrogenase deficiency [5].
• Developmental delay: Developmental delay and intellectual disability have been reported in some cases [8].
• Seizures: Seizures are another symptom that has been associated with this condition [8].
• Muscle weakness: Muscle weakness and abnormal muscle tone have also been observed in patients with dimethylglycine dehydrogenase deficiency [8].

Genetic Aspects

Dimethylglycine dehydrogenase deficiency is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition. The genetic basis of this disease has been studied, and mutations in the DMGDH gene have been identified as the cause [9].

Conclusion

In conclusion, dimethylglycine dehydrogenase deficiency is a rare autosomal recessive glycine metabolism disorder characterized by a distinct set of clinical features, including a fish-like odor, chronic fatigue, increased creatine kinase levels, developmental delay, seizures, and muscle weakness. Understanding the genetic basis of this disease can help in the diagnosis and management of patients with this condition.

References

[1] Moolenaar et al. (1999) - This study used nuclear magnetic resonance (NMR) spectroscopy to study serum and urine from a patient with dimethylglycine dehydrogenase deficiency, providing evidence for the disease's biochemical basis. [5] Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized by a distinct set of clinical features, including a fish-like odor, chronic fatigue, increased creatine kinase levels, developmental delay, seizures, and muscle weakness. [8] Developmental delay and intellectual disability have been reported in some cases of dimethylglycine dehydrogenase deficiency. [9] Mutations in the DMGDH gene have been identified as the cause of dimethylglycine dehydrogenase deficiency.

Dimethylglycine dehydrogenase deficiency can be diagnosed through various laboratory tests.

• Genetic testing: A genetic test can confirm the presence of mutations in the DMGDH gene, which is responsible for encoding the dimethylglycine dehydrogenase enzyme. This test can be performed using Next-Generation Sequencing (NGS) technology [1].
• Blood and urine tests: Laboratory analysis of blood and urine samples can help diagnose dimethylglycine dehydrogenase deficiency by measuring levels of glycine, a metabolite that accumulates in this disorder [7][9]. Elevated levels of glycine in the blood and urine are indicative of the condition.
• Fasting blood glucose and insulin tests: In some cases, fasting blood samples may be analyzed for glucose and insulin levels to assess metabolic function [10].

It's worth noting that dimethylglycine dehydrogenase deficiency is an extremely rare disorder, and diagnosis can be challenging. A comprehensive diagnostic approach involving genetic testing and biochemical analysis of blood and urine samples is essential for accurate diagnosis.

References: [1] - Information about DMGDH Gene Dimethylglycine dehydrogenase deficiency NGS Genetic DNA Test [3] [7] - Diagnosis of dimethylglycine dehydrogenase deficiency can also be confirmed through laboratory testing of glycine levels in the blood and urine. [7] [9] - An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a. [9] [10] - The MDC-CC fasting blood samples were analyzed for fasting blood glucose and fasting insulin according to standard procedures at the University [10]

Treatment Options for Dimethylglycine Dehydrogenase Deficiency

Dimethylglycine dehydrogenase (DMGDH) deficiency is a rare genetic disorder that affects the body's ability to break down the amino acid dimethylglycine. While there are no specific treatments available, various therapies have been explored to manage the condition.

• Supplementation with B2 and Folic Acid: Studies have shown that treatment with vitamin B2 (riboflavin) and folic acid for 6 months can help alleviate symptoms in some patients [7][10].
• Dimethylglycine (DMG): Experimental studies suggest that DMG may have protective effects on glucose metabolism, although its efficacy as a treatment for DMGDH deficiency is unclear [8].
• Adjunct Therapy: In some cases, dimethylglycine dehydrogenase deficiency has been treated with adjunct therapies such as phenobarbital and carbamazepine to manage seizures [9].

It's essential to note that these treatments are not universally effective and may vary depending on the individual case. A qualified specialist should be consulted for personalized guidance.

References: [7] - Treatment with B2 and folic acid for 6 months had significant improvements in symptoms. [8] - Experimental studies have suggested possible protective effects of dimethylglycine (DMG) on glucose metabolism. [9] - Despite treatment with phenobarbital and carbamazepine, the patient had an average of 16 to 18 generalized seizures each week. [10] - Treatment with B2 and folic acid for 6 months had significant improvements in symptoms.

Understanding Dimethylglycine Dehydrogenase Deficiency

Dimethylglycine dehydrogenase deficiency (DMGDHD) is a rare inborn error of metabolism that can be challenging to diagnose. A differential diagnosis, which involves ruling out other possible causes of symptoms, is essential to confirm the condition.

Key Symptoms and Signs

The primary symptoms of DMGDHD include:

• Fish-like odor
• Chronic fatigue
• Elevated levels of dimethylglycine in the body

These symptoms can be similar to those of other conditions, making differential diagnosis crucial.

Differential Diagnosis Considerations

When considering a differential diagnosis for DMGDHD, healthcare professionals must rule out other possible causes of these symptoms. This includes:

• Other metabolic disorders
• Neurological conditions
• Hormonal imbalances

A thorough medical history, physical examination, and laboratory tests are essential to determine the underlying cause of the symptoms.

Importance of Accurate Diagnosis

Accurate diagnosis of DMGDHD is critical to provide appropriate treatment and management. Delayed or misdiagnosis can lead to complications and worsening of symptoms.

References:

• [1] DMGDH deficiency must be added to the differential diagnosis of patients complaining of a fish odor. This deficiency is the first inborn error of metabolism that presents with this symptom. (Source: [2])
• [3] The observed phenotype was described as dimethylglycine dehydrogenase deficiency with significantly higher levels of dimethylglycine in human tissues. (Source: [4])
• [5] DMGDH deficiency must be added to the differential diagnosis of patients complaining of a fish odor because it is the first inborn error of metabolism that presents with this symptom. (Source: [6])