Is it tyrosinemia_?

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Clinical Problem:

Ira Shah
Medical Sciences Department, Pediatric Oncall, Mumbai, India

Address for Correspondence: Dr Ira Shah, 1, B Saguna, 271, B St Francis Road, Vile Parle {W}, Mumbai 400056

A 2½ years old boy born of third degree consanguineous marriage presented with bulky frothy stools for 6 months and low hemoglobin, abdominal distension for 4 months for which he had received a blood transfusion 4 months ago. Parents also noticed bow legs for past 3 months. There was no jaundice, or polyuria. For the anemia, a bone marrow aspiration had been done that was normal. His elder brother was on treatment for leukemia. Currently, the patient was on iron, calcium and vitamin D supplements. His birth was uneventful and milestones were appropriate for age. On examination, height was 86 cm, weight was 13 kg. He had rickets with genu varus and hepatosplenomegaly. Investigations showed hemoglobin 10.9 gm, dl, white cell count 9,100 cells, cumm, platelets 91,000, cumm, bilirubin 1.4 mg, dl {direct 0.9 mg percent} SGOT 116 IU, L, SGPT 85 IU, L, total proteins 4.6 gm, dl, albumin 2.8 gm, dl, prothrombin time {PT} 21.4 sec, partial thromboplastin time {PTT} 25.6 sec, alkaline phosphatase 2120 IU, L, pH 7.436 with bicarbonate 18.0 mmol, L and alpha feto protein 8019 IU, ml. Ultrasound abdomen showed splenomegaly, nephromegaly {right kidney = 8.2 x 4.7 cm, left kidney = 8.7 x 5.8 cm} with doppler showing intrahepatic collaterals. Urine organic acids showed increased phenylalanine, lactate, glycerate, fructose, tyrosine, 4-hydroxyphenyl lactate and 4-hydroxyphenyl pyruvate suggestive of tyrosinemia though urine succinyl acetone was normal. Esophageogastroscopy showed varices in body, fundus and antrum of stomach. HIV Elisa, HBsAg and Hepatitis B were negative. He was treated with Vitamin K, folic acid, bicarbonate supplements, propanolol and diet restricted in tyrosine and phenylalanine.

Can this be tyrosinemia with normal urine succinyl acetone_?

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