Metabolic disorders in pediatric oncall

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Metabolic disorders

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Rakesh Kumar, Puja Bhagat Department of Pediatrics, Katihar Medical College, Katihar, Bihar, India ...

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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 special babyfood formula for suspect PKU disorder (low phenylalanine formula ) Check Out the Answer
Question Category : Metabolic disorders
This query is related to inborn error of metabolism. 37 weeks aga female child born of third degree consanginuous marriage to graavida 3 para2 A0 and 2 neontal death. First male child was born by vaginal delivery has passed meconium in utero.not required any resuscitation. child has lethargy and refusal to feed for which transfered 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 transfered to nicu for ten days. He was treated with antibiotics and o2 . On discharge child was well, during subsequent period he has intermittent episodes of nonconsolable cry. he was breast fed and showing weight gain. At two and half monyhs of age during routine follow found to have hepatomegaly for which he was admitted and investigated. 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. child died in five days of admission with hepatic enceph. present female child born of elective lscs.she was norml 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 started on breast feeding and again investigated at 72 hours of life showing n rbs ,sr ammmonia, vbg was n. her liver enzymes showing 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 r 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 pt. with acidotic breathing,no cough or any resp. complaint,fever+,age 3 mon.On investigating his bl.sugar was 317mg.% urine sugar+++,no ketone bodies.Is there an entity like transient neonatal diabetes mellitus.Pl.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 1 st degree consanous 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 some dr tell me, What types of special precaution to take if the child has diagnosed Hetrogygous Galactosemia, and his parents also has the same, and all are healthy, child is 7 month old with breast feed, Reducing substance Absent, Cattract Absent. Dr Shakeel Check Out the Answer
Question Category : Metabolic disorders
2.5 years healthy male child admitted for febrile convulsions found to have urine sugar 2 + consistently(confirmed.) can i.v.E.P fluid maintainence be 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
Refractory hyperkalemia and hypocalcemia in a neonate with convulsions. causes and treatment? Check Out the Answer
Question Category : Metabolic disorders
2w old NB present with lethargy,weak cry.Previous 2 deaths at day 2 &3 after birth.Both delivered vajinally without complication &had hyperpnea. on ex. full term NB lethargic,weak primitive reflexes ,no acidosis. Exa. of all systems are normal except for 3f below costal margin firm hepatomegaly. Random bd 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 possibities. 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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