Glutaric aciduria type II
ICD-10 E71.313 is a billable code used to indicate a diagnosis of glutaric aciduria type ii.
Glutaric aciduria type II (GA II) is a rare metabolic disorder caused by a deficiency of the enzyme electron transfer flavoprotein (ETF) or its associated proteins. This condition leads to the accumulation of glutaric acid and other organic acids in the body, particularly during periods of fasting or illness. Patients with GA II may present with a range of symptoms including metabolic acidosis, hypoglycemia, muscle weakness, and neurological manifestations such as seizures or developmental delays. The disorder is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for the disease to manifest. Diagnosis is typically confirmed through biochemical testing, which reveals elevated levels of glutaric acid and other metabolites in urine and plasma. Early detection and management are crucial to prevent severe complications, including neurological damage. Treatment often involves dietary modifications to limit protein intake and supplementation with specific nutrients to support metabolic function. Regular monitoring and supportive care are essential for managing this chronic condition.
Detailed growth and developmental assessments, metabolic screening results.
Infants presenting with metabolic crises, developmental delays.
Need for ongoing monitoring of growth and metabolic status.
Family history, genetic testing results, and counseling notes.
Families seeking genetic counseling after a diagnosis.
Documentation of inheritance patterns and implications for family members.
Used when confirming a diagnosis of GA II through genetic analysis.
Include patient consent and family history.
Genetic specialists should document findings thoroughly.
Common symptoms include metabolic acidosis, hypoglycemia, muscle weakness, seizures, and developmental delays.
