dimethylglycine dehydrogenase deficiency

Dimethylglycine dehydrogenase deficiency is an extremely rare metabolic disorder that affects glycine metabolism. It is caused by changes in the DMGDH gene, which is responsible for producing the enzyme dimethylglycine dehydrogenase. The condition has been reported in a single family, and the affected individual experienced symptoms such as muscle fatigue and a distinctive fish-like odor. Because it is extremely rare, affecting fewer than one in a million people, there is very limited information available on its broader clinical spectrum.

Based on the single reported case, the clinical presentation of this disorder includes muscle fatigue and a fish-like odor, features that are considered characteristic in this context. Not all individuals necessarily experience every symptom, and the severity and exact combination of symptoms can vary considerably. Given the rarity of this condition, further information on additional clinical features remains limited.

Dimethylglycine dehydrogenase deficiency arises due to pathogenic variants in the DMGDH gene. In this autosomal recessive condition, affected individuals inherit two altered copies of the gene, one from each parent. This inheritance pattern means that the disorder is more common when parents share a common ancestor, since both parents have an increased likelihood of carrying the same rare genetic variation. Genetic counseling is recommended to help families understand these implications and navigate future family planning.

Currently, management focuses on supportive care and symptom management, as there are no FDA-approved or foundational therapies specifically indicated for dimethylglycine dehydrogenase deficiency. Treatment is tailored to the individual and may involve strategies to ease muscle fatigue and manage other symptoms. Patients are encouraged to discuss their treatment options with their healthcare team, and genetic counseling is recommended to assist families in understanding inheritance patterns and making informed decisions for family planning.

Because the disorder has been reported in only one family, long-term outcomes remain uncertain and vary widely between individuals. Outcomes described in medical literature continue to evolve as standards of care improve, and modern approaches to supportive care can positively influence quality of life. Families may benefit from connecting with genetic counselors and specialists experienced in metabolic disorders to stay informed about ongoing care. It is important to recognize that severity and symptoms vary widely between individuals, making personalized follow-up an essential part of management.

Clinical trials are underway exploring new treatment approaches for conditions affecting metabolic pathways, including dimethylglycine dehydrogenase deficiency. Individuals interested in learning more about ongoing research may consult ClinicalTrials.gov or speak with their healthcare team about potential eligibility for clinical trials.