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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

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Published on: June 25, 2010

Homocystinuria masquerading as vitamin B12 deficiency.

M Wadhwani¹, S Beri, A Saili

¹Dr RP Center for Ophthalmic Science, AIIMS, New Delhi, India.

Nepalese Journal of Ophthalmology : a Biannual Peer-Reviewed Academic Journal of the Nepal Ophthalmic Society : NEPJOPH

|August 7, 2012

Summary

Homocystinuria can mimic vitamin B12 deficiency, presenting with developmental delays and skin changes. Early diagnosis through ophthalmological exams is crucial for affected children.

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Area of Science:

Metabolic Disorders
Pediatric Neurology
Clinical Genetics

Background:

Homocystinuria is a rare metabolic disorder with elevated urinary homocysteine.
Vitamin B12 deficiency presents with varied neurological, cutaneous, and ophthalmic symptoms.

Observation:

A 4-year-old boy initially diagnosed with vitamin B12 deficiency due to developmental delay, abdominal pain, and hyperpigmentation.
The patient's presentation mimicked typical symptoms of vitamin B12 deficiency.

Findings:

The child was ultimately diagnosed with homocystinuria.
This case highlights the diagnostic challenge posed by homocystinuria mimicking other conditions.

Implications:

Ophthalmological examination is vital in cases of megaloblastic anemia with visual disturbances and cognitive impairment.
Timely diagnosis of homocystinuria is essential to prevent severe complications.