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Isovaleric acidemia: report of one case
Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui
|July 1, 1990
Summary
Isovaleric acidemia can mimic diabetic ketoacidosis, presenting with acute encephalopathy and pancytopenia. Early diagnosis and treatment, including a low-protein diet, are crucial for managing this metabolic disorder.
Area of Science:
- Metabolic disorders
- Pediatric neurology
- Clinical biochemistry
Background:
- Isovaleric acidemia is an inherited metabolic disorder affecting leucine metabolism.
- It can present with diverse and severe symptoms, complicating diagnosis.
Observation:
- A 3-year-old male with psychomotor retardation experienced recurrent encephalopathy and pancytopenia after infections.
- Admission symptoms included vomiting, dehydration, acidosis, ketonuria, coma, and a distinct odor.
- Laboratory findings revealed hyperglycemia, hyperammonemia, hyperamylasemia, hypocalcemia, neutropenia, thrombocytopenia, and anemia.
Findings:
- Gas chromatography-mass spectrometry confirmed high levels of 3-beta-hydroxyisovaleric acid and isovalerylglycine in urine.
- Serum and urine amino acid levels were within normal limits.
- The patient responded well to rehydration and insulin therapy, with normalized blood glucose post-illness.
Implications:
- This case highlights the importance of considering inborn errors of metabolism, like isovaleric acidemia, in the differential diagnosis of diabetic ketoacidosis-like presentations in children.
- Prompt identification and management, including dietary modifications, can lead to significant clinical improvement and better outcomes.