A case of classical Galactosaemia presenting with Fanconi syndrome

Abstract

Introduction Galactosemia is a rare autosomal recessive metabolic disorder with the prevalence of 1;60000. Classical Galactosemia (CG) is the most common variant of Galactosemia and which is due to deficiency of Galactose-1-phosphate uridyltransferace enzyme. Fanconi Syndrome (FS) is a rare presentation of CG. Here we present a baby girl with CG presenting with FS. Case Report A 5-month old baby girl presents with recurrent non bilious vomiting since early neonatal period. She was the first baby born to second degree consanguineous parents. The baby was exclusively breast fed since birth and there was a history of feeding intolerance. Her weight gain was suboptimal. On admission, she looks ill, tachypneic and dehydrated and her anthropometric parameters were <-3SD. There was 4cm hepatomegaly without splenomegaly. Her development age was 3 months. Her basic haematological parameters and inflammatory markers were normal. There was elevated liver enzymes with normal renal functions. She had normal anion gap metabolic acidosis with positive clinitest and clinistix tests. Further investigations reveled proximal tubular dysfunction, hypophosphatemia, hypocalcaemia and low vitamin D3 levels. Dry blood spot for serum galactose level was well above the normal range. (67.55mg/dL). Based on the clinical and biochemical findings, the diagnosis of CG complicated with FS was made and she was commenced on lactose free formula, bicarbonate and oral potassium. Her symptoms were markedly improved with good weight gain following the treatment. Conclusion When CG presenting with FS, both clinitest and clinistix tests become positive resulting diagnostic difficulty.

Keywords

• galactosemia, fanconi, clinitest, clinistix, acidosis