ABSTRACT
Biotinidase deficiency (BD) is an inborn metabolic disorder caused by low enzyme activity giving rise to impaired biotin release from dietary proteins. The first symptoms may be seen at first week following birth until 1 year of age. The goal of the therapy is to increase biotin bioavailability by daily 5-20 mg lifelong biotin replacement. Three-month-old girl born to nonconsanguineous parents, admitted to pediatric intensive care with multiple seizures, breathing difficulty and posturing. Blood investigations showed thrombocytopenia and high anion gap metabolic acidosis (HAGMA). Enzyme assay for biotinidase revealed low activities. Urinary organic acid analysis was normal. Enzyme activity is <10% in severe cases whereas between 10-30% in partial deficiency. BD can cause metabolic ketoacidosis, Hyperammonemia and organic Aciduria. BD behaves like immunodeficiency. Rarely bacterial infection can be seen. Treatment is lifelong biotin replacement.
ABSTRACT
Introduction: Nodding syndrome is an unknown neurological disorder affecting children in Northern Uganda, South Sudan and Southern Tanzania. The patient in our case report is, to the best of our knowledge, the first with the syndrome that has been serially followed up for more than three months and the information obtained provides important clue to the possible risk factor to the syndrome. Case Presentation: A 13-year-old boy diagnosed in Atanga Health Centre III using World Health Organization (WHO) surveillance case definition as probable Nodding syndrome was referred to Gulu Regional Referral Hospital with pyomyositis of abdominal wall muscle and head nodding which was not responding to treatment. Serial anthropometry and laboratory investigations including, haematology, clinical chemistry, biochemistry and muscle biopsy were conducted in a period of 3 months and compared to the nodding episodes. Complete blood count showed leucocytosis with immature granulocytes and atypical lymphocytes mainly during the infective phase of the pyomyositis but returned to normal as a result of the surgical procedure, Incision, Drainage and Debridement (I, D & D) of pyomyositis of the anterior abdominal wall muscle combined with administration of antibiotics and analgesics. The liver enzymes were high throughout the period of admission in Gulu Hospital. The renal parameters and serum electrolytes were within normal ranges during the nodding free periods but it was deranged during the nodding episodes. Abdominal ultrasound scan showed a focal mass on the right internal and external oblique muscles of the abdominal wall. Histology of the muscle showed a non-specific inflammation of the abdominal muscles with mass necrosis of the muscle and thrombosed blood vessels. These findings highlight the concurrent existence of pyomyositis in a child with Nodding Syndrome but whose nodding episodes were pronounced during the periods with imbalanced electrolyte pattern and with high anion gap. In conclusion: Nodding syndrome is an unknown neurological disorder affecting children whose nodding episodes are probably related to the high Anion Gap metabolic acidosis.
ABSTRACT
Aims: To conduct a hormonal and biochemical studies on 10 patients with diagnosis of probable Nodding Syndrome (NS). Study Design: A cross-sectional study Place and Duration of Study: Atanga Health Center III in Pader District in Northern Uganda in September 2012. Methodology: We recruited consecutively 10 children with probable Nodding Syndrome who had been admitted for symptomatic management of seizures, injuries resulting from falls and nutritional rehabilitation. History, physical examinations, biophysical measurements (anthropometry) and blood investigations including serum electrolytes, liver function tests, thyroid hormones and vitamin D assays. Ethical approval was obtained from Gulu University Institutional Review Committee. Results: All children had severely low serum calcium and bicarbonate levels and a high Anion Gap. Thyroid hormones and vitamin D assays were largely normal. Conclusion: Children with Nodding Syndrome undergoing treatment for seizure control and nutritional rehabilitation have high Anion Gap metabolic acidosis.
ABSTRACT
We present a case of ethylene glycol poisoning with high anion gap metabolic acidosis. A 71 year-old female patient was transferred to our hospital after ingesting 450 mL of anti-freeze. At arrival she showed high anion gap metabolic acidosis with pH 7.035, PaCO2 7.2 mmHg, PaO2 117.5 mmHg, HCO3 - 1.9 mmol/L and anion gap 32 mmol/L. Calcium oxalate crystals were identified on urine microscopy. Bicarbonate treatment did not improve her metabolic acidosis, and oliguric acute renal failure was developed. So she was treated with hemodialysis. After the hemodialysis treatment her metabolic acidosis was corrected and her renal function was improved. She was discharged on the 22nd day.
Subject(s)
Aged , Female , Humans , Acid-Base Equilibrium , Acidosis , Acute Kidney Injury , Calcium Oxalate , Ethylene Glycol , Hydrogen-Ion Concentration , Microscopy , Poisoning , Renal DialysisABSTRACT
OBJECTIVES: Urine anion gap(UAG) and urine osmolal gap(UOG) were proposed as indirect measures of urine ammonium(NF4+). While the former is known to have its usefulness limited to hyperchloremic metabolic acidosis, the latter is reported to have its correlation with urine NE4+ in ketoacidosis. This study was undertaken to evaluate the correlation of urine NH with IJOG in high anion gap metabolic acidosis(AGMA) and to compare it with UAG. METHODS: We measured urine NH' by enzymatic determination, UOG(=0.5 X [urine osmolality-{2 X (Na++K+)+urea+glucose)]), and UAG(=Na++K+-Cl-) in 18 patients(serum AG=24.4+/-1.6mmol/L ) with AGMA. RESULTS: When they were grouped into those with acute disorders(n=11) and those with chronic disorder(n=7), urine Nk4+ concentration was higher (p40mmol/d) had the UOG>40mmol/L. CONCLUSION: In contrast to the UAG, the UOG has a significant correlation with urine NH4+ in AGMA.