Early and fortuitous diagnosis of alkaptonuria while searching other inherited metabolic diseases. Three cases report.

Abstract

Alkaptonuria is a rare metabolic disease. Its Diagnosis is frequently made in adulthood. We report three unusually cases of alkaptonuria diagnosed fortuitously at early age while searching other inherited metabolic diseases. The first case was a boy aged 3 months presented for seizures resistant to treatment and hypotonia. The second patient was a girl aged 7 months, presented for repeated severe lung infections. She had severe hypotrophy, hepatomegaly and cardiomegaly. She was short in stature and had a small narrow rib cage and craniofacial disproportions. The third case was a boy aged 18 months presented for cardiomyopathy, liver failure, hepatomegaly, haemostasis disorder and anemia. In addition, a darkening of urine after standing was noted. For all these patients, urinary organic acids profiles determined by gas chromatography-mass spectrometry revealed the presence of high amount of homogentisic acid confirming the diagnosis of alkaptonuria. Association of alkaptonuria with other inborn errors of metabolism hasn’t been reported previously. Further studies may bring additional clarifications of relationships between these diseases.