Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients: Six years experience

Objective: To determine the prevalence and types of inborn errors of amino acid or organic acid metabolism in a group of high risk Egyptian children with clinical signs and symptoms suggestive of inherited metabolic diseases. Subjects and Methods: 117 (79 males ═ 67.5 % and 38 females ═ 32.5 %) high risk patients with signs and symptoms of a metabolic disorder were studied, their ages ranged from 3 days to 12 years. Analysis of urine organic acids by gas chromatography/mass spectrometry (GC/MS) was performed to all patients. Results: 22(18.8 % of the total) cases were diagnosed with different types of aminoacidopathies or organic acidurias. The disease profile showed increased lactate in 12 cases (54 %), glutaric aciduria type I 3cases (13 %), phenylketonuria 2 cases (9 %), maple syrup urine disease 1 case (4.5 %), glutaric aciduria type II 1 case (4.5 %), methylmalonic aciduria 1 case (4.5 %), Canavan disease 1 case (4.5 %) and non ketotic hyperglycemia 1 case (4.5 %). Conclusion: The results demonstrate the importance of the organic acid profile in the diagnosis of high risk patients. The diagnosed organic acid pattern in this study showed that 10.2 % of the patients had a mitochondrial energy defect.Key Words: Organicacidurias, organicacidemias, gas chromatography/mass spectrometry, organic acid profile analysis

Water, electrolytes, vitamins and trace elements - Guidelines on Parenteral Nutrition, Chapter 7

A close cooperation between medical teams is necessary when calculating the fluid intake of parenterally fed patients. Fluids supplied parenterally, orally and enterally, other infusions, and additional fluid losses (e.g. diarrhea) must be considered. Targeted diagnostic monitoring (volume status) is required in patients with disturbed water or electrolyte balance. Fluid requirements of adults with normal hydration status is approximately 30–40 ml/kg body weight/d, but fluid needs usually increase during fever. Serum electrolyte concentrations should be determined prior to PN, and patients with normal fluid and electrolyte balance should receive intakes follwing standard recommendations with PN. Additional requirements should usually be administered via separate infusion pumps. Concentrated potassium (1 mval/ml) or 20% NaCl solutions should be infused via a central venous catheter. Electrolyte intake should be adjusted according to the results of regular laboratory analyses. Individual determination of electrolyte intake is required when electrolyte balance is initially altered (e.g. due to chronic diarrhea, recurring vomiting, renal insufficiency etc.). Vitamins and trace elements should be generally substituted in PN, unless there are contraindications. The supplementation of vitamins and trace elements is obligatory after a PN of >1 week. A standard dosage of vitamins and trace elements based on current dietary reference intakes for oral feeding is generally recommended unless certain clinical situations require other intakes

Water, electrolytes, vitamins and trace elements – Guidelines on Parenteral Nutrition, Chapter 7

A close cooperation between medical teams is necessary when calculating the fluid intake of parenterally fed patients. Fluids supplied parenterally, orally and enterally, other infusions, and additional fluid losses (e.g. diarrhea) must be considered. Targeted diagnostic monitoring (volume status) is required in patients with disturbed water or electrolyte balance. Fluid requirements of adults with normal hydration status is approximately 30–40 ml/kg body weight/d, but fluid needs usually increase during fever. Serum electrolyte concentrations should be determined prior to PN, and patients with normal fluid and electrolyte balance should receive intakes follwing standard recommendations with PN. Additional requirements should usually be administered via separate infusion pumps. Concentrated potassium (1 mval/ml) or 20% NaCl solutions should be infused via a central venous catheter. Electrolyte intake should be adjusted according to the results of regular laboratory analyses. Individual determination of electrolyte intake is required when electrolyte balance is initially altered (e.g. due to chronic diarrhea, recurring vomiting, renal insufficiency etc.). Vitamins and trace elements should be generally substituted in PN, unless there are contraindications. The supplementation of vitamins and trace elements is obligatory after a PN of >1 week. A standard dosage of vitamins and trace elements based on current dietary reference intakes for oral feeding is generally recommended unless certain clinical situations require other intakes

Amino acids – Guidelines on Parenteral Nutrition, Chapter 4

Protein catabolism should be reduced and protein synthesis promoted with parenteral nutrion (PN). Amino acid (AA) solutions should always be infused with PN. Standard AA solutions are generally used, whereas specially adapted AA solutions may be required in certain conditions such as severe disorders of AA utilisation or in inborn errors of AA metabolism. An AA intake of 0.8 g/kg/day is generally recommended for adult patients with a normal metabolism, which may be increased to 1.2–1.5 g/kg/day, or to 2.0 or 2.5 g/kg/day in exceptional cases. Sufficient non-nitrogen energy sources should be added in order to assure adequate utilisation of AA. A nitrogen calorie ratio of 1:130 to 1:170 (g N/kcal) or 1:21 to 1:27 (g AA/kcal) is recommended under normal metabolic conditions. In critically ill patients glutamine should be administered parenterally if indicated in the form of peptides, for example 0.3–0.4 g glutamine dipeptide/kg body weight/day (=0.2–0.26 g glutamine/kg body weight/day). No recommendation can be made for glutamine supplementation in PN for patients with acute pancreatitis or after bone marrow transplantation (BMT), and in newborns. The application of arginine is currently not warranted as a supplement in PN in adults. N-acetyl AA are only of limited use as alternative AA sources. There is currently no indication for use of AA solutions with an increased content of glycine, branched-chain AAs (BCAA) and ornithine-α-ketoglutarate (OKG) in all patients receiving PN. AA solutions with an increased proportion of BCAA are recommended in the treatment of hepatic encephalopathy (III–IV)

Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete

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