Inborn Error Of Metabolism - Pediatric Oncall

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Rakesh Kumar, Binay Ranjan, Manjul Vijay Department of Pediatrics, Katihar medical college, Katihar...

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	Specialist Answers
Question
This query is related to inborn error of metabolism. A 37 weeks female child, born of third degree consanguineous marriage to graavida 3 para2 A0 and 2 neontal death. First male child was born by vaginal delivery has passed meconium in utero. He did not require any resuscitation. Child was lethargic and refused to feed for which he was transferred to NICU where he expired in twenty hours. His investigations revealed severe metabolic acidosis with creatinine of 1.6mg and cause of death was given as refractory shock with uremia. Second male child born of forcep delivery with msaf and was transferred to NICU for ten days. He was treated with antibiotics and O2. On discharge the child was well, during subsequent period he had intermittent episodes of unconsolable cry. He was breast fed and was showing weight gain. At two and half month of age during routine follow up, he was found to have hepatomegaly for which he was admitted in the hospital. And it was investigated that his liver enzymes were sgpt 130 and sgot 405, sr nh3 was 25 (n 23mg), rbs74mg, ggpt 430,. sr lactate was normal no met, acidosis. The child died in five days of admission with hepatic enceph. My present female child born of elective LSCS. she was normal on clinical examination. she was kept NBM on iv fluids for 24 hrs and investigated which shown normal rbs, no met acidosis , sr ammonia was n, SGOT 75 u (n 4-49 u) sgpt n, After 24hrs was started on breast feeding and again investigated at 72 hours of life showing n rbs ,sr ammmonia, vbg was n. Her liver enzymes showed mild derrangement in her sgpt 57u (4-45 u) and sgot 137 (4-49u). Clinically baby is accepting feed well and having normal examination. What should be further line of management and what can be probable d/d? There are limitation for diagnostic lab study for IEM.
Answer
Since the first child has died of severe metabolic disease and other due to hepatic encephalopathy, one may consider metabolic disorders such as galactosemia, fatty acid oxidation defects and tyrosinemia. The chances of metabolic disorders recurring would be 25%. Since the present child is normal, one would not know whether she has any problem or not. Also the SGOT could be high due to collection of blood by squeezing (muscle SGOT increases). Workup would be required only if she has symptoms or acidosis or hepatic dysfunction. Back to All Questions

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