This leads to treatment measures such as the administration of antibiotics and laxatives. Vitamin B12
Since some forms of methylmalonic acidemia respond to vitamin B12, treatment attempts in CMAMMA due to ACSF3 with vitamin B12 have been made, also in the form of hydroxocobalamin injections, which, however did not lead to any clinical or biochemical effects. L-Carnitin
One study also mentions treatment with L-carnitine in patients with CMAMMA due to ACSF3, but only retrospectively and without mentioning results. messenger RNA
Preclinical proof of concept studies in animal models have shown that messenger RNA (mRNA) therapy is also suitable for use in rare metabolic diseases. In this regard, the phase 1/2 study (mRNA-3704 & mRNA-3705) for the treatment of isolated methylmalonic acidemia, which has been ongoing since 2019 by the biotechnology company Moderna, is worth mentioning. Research
In 1984, CMAMMA (due to malonyl-CoA decarboxylase deficiency) was described for the first time in a scientific study. Further studies on this form of CMAMMA followed until 1994, when another form of CMAMMA with normal malonyl-CoA decarboxylase activity was discovered. In 2011, genetic research through exome sequencing identified the ACSF3 gene as a cause of CMAMMA with normal malonyl-CoA decarboxylase. With a study published in 2016, calculation of the MA/MAA ratio in plasma presented a new possibility for rapid, metabolic diagnosis of CMAMMA.
However a finding such as 2,3-toe syndactyly raises the index of suspicion for Smith-Lemli-Opitz Syndrome.Most open source projects that perform phenotype-driven disease or gene prioritization work with the terminology of the Human Phenotype Ontology. This controlled vocabulary can be used to describe the clinical features of a patient and is suitable for machine learning approaches. Publicly accessible databases that labs use to deposit their diagnostic findings, such as ClinVar, can be used to build knowledge graphs to explore the clinical feature space.Dysmorphic features are invariably present from birth, although some are not immediately apparent upon visual inspection. They can be divided into groups based on their origin, including malformations (abnormal development), disruptions (damage to previously normal tissue), deformations (damage caused by an outside physical force) and dysplasias (abnormal growth or organization within a tissue). Dysmorphology
Dysmorphology is the discipline of using dysmorphic features in the diagnostic workup and delineation of syndromic disorders. In the recent years advances in computer vision have also resulted in several deep learning approaches that assist geneticists in the study of the facial gestalt. == References ==