E71.313
Glutaric aciduria type II
Clinical Classification Guidelines
Inclusion Terms
- Glutaric aciduria type II A
- Glutaric aciduria type II B
- Glutaric aciduria type II C
Excludes Type 1
- glutaric aciduria (type 1) NOS (E72.3)
Medical Intelligence & Overview
Glutaric aciduria type II, also known as Multiple Acyl-CoA Dehydrogenase Deficiency, is a rare inherited metabolic disorder that affects the body's ability to break down proteins and fats for energy. Characterized by impaired enzyme activity, this condition can lead to a buildup of toxic substances in the body, affecting various organs and tissues. It presents in different forms, primarily classified as types I, II, and III, often distinguished by their severity and age of onset. Type II, specifically, encompasses subtypes A, B, and C, each with unique clinical features. Early diagnosis and management are crucial to prevent potential complications.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting genes involved in fatty acid and amino acid metabolism Inheritance pattern: autosomal recessive, meaning both parents carry a copy of the mutated gene Mutations in genes such as ETF or ETFDH are commonly associated with type II
Key Symptoms: Muscle weakness or hypotonia Poor feeding and vomiting in infants Lethargy and fatigue Developmental delays Hypoglycemia (low blood sugar levels) Liver dysfunction Metabolic crisis during illness or fasting periods In some cases, episodes of metabolic acidosis
Diagnostic & Treatment
Diagnosis Path: Diagnosis involves a combination of clinical evaluation and laboratory tests. Blood and urine analyses can reveal elevated levels of organic acids and acylcarnitines associated with the disorder. Enzymatic activity tests, alongside genetic testing, are employed to confirm the specific type and subtype of glutaric aciduria. Newborn screening programs using tandem mass spectrometry are often instrumental in early detection, facilitating timely intervention before symptoms emerge.
Treatment Protocols: Low-fat and specialized diets to control intake of affected amino acids and fats Supplementation with riboflavin (vitamin B2) in some cases, as it may improve enzyme function Carnitine supplementation to facilitate the removal of accumulated organic acids Avoidance of fasting and prompt treatment during illnesses to prevent metabolic crises Regular monitoring by healthcare specialists to assess metabolic control and development
Clinical Advice & FAQs
Billing Guidance
Is E71.313 a billable ICD-10 code?
Yes, E71.313 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E71.313?
Clinical documentation must specify the nature of Glutaric aciduria type II and any associated comorbidities for accurate reporting.
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