eMedicine Specialties > Neurology > Pediatric Neurology

Metabolic Disease and Stroke - Propionic Acidemia: Differential Diagnoses & Workup

Author: Pitchaiah Mandava, MD, PhD, Assistant Professor, Department of Neurology, Baylor College of Medicine; Consulting Staff, Department of Neurology, Michael E DeBakey Veterans Affairs Medical Center
Coauthor(s): Thomas A Kent, MD, Professor, Department of Neurology, Baylor College of Medicine; Neurology Care Line Executive, Michael E DeBakey Veterans Affairs Medical Center
Contributor Information and Disclosures

Updated: Nov 4, 2008

Differential Diagnoses

Anterior Circulation Stroke
Metabolic Disease & Stroke: Fabry Disease
Aseptic Meningitis
Metabolic Disease & Stroke: Homocystinuria/Homocysteinemia
Basilar Artery Thrombosis
Metabolic Disease & Stroke: MELAS
Blood Dyscrasias and Stroke
Moyamoya Disease
Cardioembolic Stroke
Neurofibromatosis, Type 1
Disorders of Carbohydrate Metabolism
Neurological Sequelae of Infectious Endocarditis
Fibromuscular Dysplasia
Posterior Cerebral Artery Stroke
Frontal Lobe Syndromes
Tuberous Sclerosis
Haemophilus Meningitis

Other Problems to Be Considered

Brainstem syndromes
Cyanotic heart disease
Ehlers-Danlos syndrome
Marfan syndrome
Mitochondrial cytopathies
Organic acidurias
Patent foramen ovale
Sickle cell disease
Thrombocytopenia

Workup

Laboratory Studies

  • When acidosis is suspected on the basis of electrolyte and arterial blood gas abnormalities, eliminate the common causes of ketoacidosis and lactic acidosis first. Seizures, diabetes, alcoholic ketoacidosis, liver disease, shock, and anoxic and/or ischemic injury of tissues are often present with acidosis.
  • If the clinical picture suggests metabolic disorder, a presumptive diagnosis may be made on the basis of blood analysis for ammonia levels, amino acids, and organic acids. Serum levels of ammonia, glycine, B-hydroxybutyrate, and acetoacetate should be elevated.
    • Perform urinalysis for amino acids and organic acids. Methyl citrate, 3-hydroxy propionate, propionyl glycine, tiglate, and tiglyl glycine should be increased in the urine.
    • Make definitive diagnosis after an enzyme analysis of fibroblasts is done. The results may show a severely depressed level of propionyl-CoA carboxylase.
    • Genetic mutation analysis can also be undertaken.
  • CBC counts may reveal neutropenia and thrombocytopenia.
  • During the workup of a young patient with suspected stroke, exclude other causes of stroke by obtaining blood, brain, vascular, and cardiac studies.

Imaging Studies

  • Acute changes in neurologic status (eg, stroke, seizure, encephalopathy) warrant neuroimaging study.
  • Several reports confirm that patients with propionic acidemia and movement disorders most likely have lesions in the bilateral lenticular and caudate nuclei.
  • By convention, both CT and MRI were used to identify these lesions.
  • More recently, positron emission tomography has been used to show decreased glucose uptake in the basal ganglia.

More on Metabolic Disease and Stroke - Propionic Acidemia

Overview: Metabolic Disease and Stroke - Propionic Acidemia
Differential Diagnoses & Workup: Metabolic Disease and Stroke - Propionic Acidemia
Treatment & Medication: Metabolic Disease and Stroke - Propionic Acidemia
Follow-up: Metabolic Disease and Stroke - Propionic Acidemia
References
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References

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Further Reading

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Keywords

propionic acidemia, propionyl-coenzyme A, CoA, carboxylase, bilateral basal ganglia infarcts, caudate infarct, putaminal infarct, globus pallidus infarct, PCCA, PCCB, metabolic disease and stroke, metabolic disorder, accumulation of propionic acid, biotin

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Contributor Information and Disclosures

Author

Pitchaiah Mandava, MD, PhD, Assistant Professor, Department of Neurology, Baylor College of Medicine; Consulting Staff, Department of Neurology, Michael E DeBakey Veterans Affairs Medical Center
Pitchaiah Mandava, MD, PhD is a member of the following medical societies: American Academy of Neurology, Sigma Xi, and Stroke Council of the American Heart Association
Disclosure: Nothing to disclose.

Coauthor(s)

Thomas A Kent, MD, Professor, Department of Neurology, Baylor College of Medicine; Neurology Care Line Executive, Michael E DeBakey Veterans Affairs Medical Center
Thomas A Kent, MD is a member of the following medical societies: American Academy of Neurology, American Neurological Association, New York Academy of Sciences, Royal Society of Medicine, Sigma Xi, and Stroke Council of the American Heart Association
Disclosure: Nothing to disclose.

Medical Editor

Richard M Zweifler, MD, Chief of Neurology, Sentara Healthcare, Norfolk, VA
Richard M Zweifler, MD is a member of the following medical societies: American Academy of Neurology, American Heart Association, American Medical Association, American Stroke Association, Royal Society of Medicine, and Stroke Council of the American Heart Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Howard S Kirshner, MD, Professor of Neurology, Psychiatry and Hearing and Speech Sciences, Vice Chairman, Department of Neurology, Vanderbilt University School of Medicine; Director, Vanderbilt Stroke Center; Program Director, Stroke Service, Vanderbilt Stallworth Rehabilitation Hospital; Consulting Staff, Department of Neurology, Nashville Veterans Affairs Medical Center
Howard S Kirshner, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, American Heart Association, American Medical Association, American Neurological Association, American Society of Neurorehabilitation, National Stroke Association, Phi Beta Kappa, and Tennessee Medical Association
Disclosure: Boehringer Ingelheim Honoraria Speaking and teaching; BMS/Sanofi Honoraria Speaking and teaching; Novartis Honoraria Speaking and teaching

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Helmi L Lutsep, MD, Professor, Department of Neurology, Oregon Health and Science University; Associate Director, Oregon Stroke Center
Helmi L Lutsep, MD is a member of the following medical societies: American Academy of Neurology and American Stroke Association
Disclosure: Co-Axia Consulting fee Review panel membership; Talecris Consulting fee Review panel membership; AGA Medical Consulting fee Review panel membership; Boehringer Ingelheim Honoraria Speaking and teaching; Concentric Medical Consulting fee Review panel membership; Abbott Consulting fee Consulting; Sanofi  Consulting

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