Metabolic Disorders FAQs - 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 Category : Metabolic disorders
How do you differentiate various causes of RICKETS clinically and biochemically? Check Out the Answer
Question Category : Metabolic disorders
How do you calculate the amount of Sodibicarb depending on the Base Excess in an ABG report? Check Out the Answer
Question Category : Metabolic disorders
Can you name a special baby food formula to suspect PKU disorder (low phenylalanine formula )? Check Out the Answer
Question Category : Metabolic disorders
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. Check Out the Answer
Question Category : Metabolic disorders
What investigations should be done in a case of hypercalciuria? Other than urine spot calcium creatinine ratio? Check Out the Answer
Question Category : Metabolic disorders
I saw a patient with acidotic breathing, no cough or any resp. complaint, fever+,age 3 mon. On investigating his blood sugar was 317mg.% urine sugar+++,no ketone bodies. Is there an entity like transient neonatal diabetes mellitus. Please tell about course of the illness, management, prognosis and other details. thanks. Check Out the Answer
Question Category : Metabolic disorders
I had a neonate 20 days 1800 grams born to 1st degree consanguineous marriage brought in state of HYPOGLYCEMIA, within 48 hrs baby went into coma and died. with routine supportive line, urine collected and reports available now shows MAPLE SYRUP URINE DIS (MSUD) WHAT SHOULD BE ADV TO PARENTS FOR NEXT CONCEPTION? Check Out the Answer
Question Category : Metabolic disorders
Can you tell me, What types of special precaution to take if the child is diagnosed with Heterozygous Galactosemia, and his parents also has the same, and all are healthy, child is 7 month old with breast feed, Reducing substance Absent, Cataract Absent. Dr Shakeel. Check Out the Answer
Question Category : Metabolic disorders
2.5 year healthy male child admitted for febrile convulsions was found to have urine sugar 2 + consistently(confirmed.) can i.v.E.P fluid maintainence be the cause of this? If yes then why the insulin level does not increase to maintain the B.S.L.Level at this age. Check Out the Answer
Question Category : Metabolic disorders
What are the indications of metabolic screening in neonates? Check Out the Answer
Question Category : Metabolic disorders
What is the cause and treatment of refractory hyperkalemia and hypocalcemia in a neonate with convulsions? Check Out the Answer
Question Category : Metabolic disorders
2 weeks old NB presents with lethargy, weak cry. Previous 2 kids died at day 2 & 3 after birth. Both were delivered vagjnally without complication & had hyperpnea. On examination full term NB was lethargic, weak primitive reflexes ,no acidosis. Examination. of all systems are normal except for 3f below costal margin firm hepatomegaly. Random blood sugar & Ca are normal. Blood is sent for c & s.GUE is normal but positive for reducing substance. My questions; 1.Does this history go with galactosemia? 2.What are other possibilities. Dr.Naji from Iraq. Check Out the Answer
Question Category : Metabolic disorders
What is the interpretation of presence of reducing sugars in urine? In which metabolic disorders they are present? Are there any false positive or false negative results?? Check Out the Answer

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