SNP Shot: Genomic Insights

Propionic acidemia is a genetic condition where the body struggles to break down specific components of proteins and fats (lipids). It's considered an organic acid disorder, meaning it causes a buildup of organic acids. These acids at abnormal levels in the blood (organic acidemia), urine (organic aciduria), and body tissues can be poisonous and lead to significant health complications.

Often, the characteristics of propionic acidemia become noticeable shortly after birth, usually within days. Early signs include feeding difficulties, vomiting, decreased appetite, low muscle tone (hypotonia), and extreme tiredness (lethargy). These symptoms can worsen, leading to severe medical issues such as heart problems, seizures, coma, and potentially death.

In less frequent instances, the symptoms of propionic acidemia emerge later in childhood and may be intermittent. Some affected children may experience intellectual disability or developmental delays. In these children with a later onset, serious health episodes can be prompted by extended periods of fasting, fever, or infections.

Inheritance:

Propionic acidemia is inherited in an autosomal recessive manner. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, who each carry only one copy of the mutated gene, are usually unaffected carriers.