Acidemia propionic is an autosomal recessive metabolic disorder classified as branched chain acidemia. It?s an inherited genetic disorder where the body is incapable of processing some proteins and fats resulting in the accumulation of these certain substances in the body.

 

Signs and symptoms

• Poor feeding
• Vomiting
• Somnolence
• Dehydration
• Acidosis
• Reduced muscle tone (hypotonia)
• Seizures
• Lethargy/irritability
• Hurried and rapid breathing
• Shock and coma

Complications

The disorder presents in the early neonatal life with progressive encephalopathy.

• Metabolic acidosis
• Neutropenia
• Aminoaciduria
• Learning disability
• Hypogammaglobulinemia
• Organic aciduria
• Thrombocytopenia
• Hypoglycemia
• Ketoacidosis
• Cardiomyopathy
• Basal ganglial stroke

Tests and diagnosis

• Serum electrolytes wide anion gap
• Specific gravity of urine- reduced urinary Ph, presence of ketone bodies in urine
• Elevated blood ammonia levels
• Elevated lactate levels
• Increased urinary organic acids- beta-hydroxy propionic acid, lactic acid, and methylcitrate
• Leukocyte propionyl CoA carboxylase activity

Treatment

Dietary management is the main stay of treatment

Halt all protein ingestion, protein not greater than 1.5 g/kg/d after the patient's condition has normalized.

Ketoacidosis is best treated with

• Increased carbohydrate calories
• Bicarbonate therapy
• Increase the fluid intake to enhance the excretion
• In severely ill patients insulin drip is helpful

Biotin 10 mg/day- but there is no good clinical evidence suggests that such treatment is effective.