Category Archives: Metabolic

Tip 249: hypoglycaemia 4

Ward based blood gas analysers should be used to guide the management of neonatal hypoglycaemia, as most handheld glucometers are not sufficiently accurate in the range of 0 – 2.0 mmol/l. Reference: British Association of Perinatal Medicine. (2017). Identification and … Continue reading

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Tip 243: neonatal hypoglycaemia 3

The definition of neonatal hypoglycaemia is capillary plasma glucose <2.6 mmol/L. The threshold for invasive treatment (nasogastric feeds or IV Dextrose) is glucose <2.0 mmol/L on two consecutive readings despite maximal support for feeding, or if the baby is not … Continue reading

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Tip 164: maternal diabetes 2

“Blood glucose testing should be carried out routinely in babies of women with diabetes at 2–4 hours after birth. Blood tests for polycythaemia, hyperbilirubinaemia, hypocalcaemia and hypomagnesaemia should be carried out for babies with clinical signs.” External link: NICE Diabetes In Pregnancy – National … Continue reading

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Tip 144: isovaleric acidaemia

The prevalence is 1 in 155,000 (EU). It is due to a deficiency of isovaleryl-CoA dehydrogenase involved in the breakdown of the amino acid, leucine. It is an autosomal recessive disorder. The screening metabolite is isovaleryl carnitine, C5. The confirmatory … Continue reading

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Tip 143: glutaric aciduria type 1

The prevalence is 1:110,000 (EU). It is an autosomal recessive condition caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. The screening index metabolite is glutaryl carnitine and the confirmatory test is plasma acylcarnitines, urinary organic acids, 3–OH glutarate and … Continue reading

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Tip 139: homocystinuria

The prevalence of homocystinuria is 1:144,000 (UK). The most common cause is a defect in the enzyme β-cystathionine synthase; this is referred to as “classical” homocystinuria. The screening index metabolite is methionine and the confirmatory test is plasma amino acids … Continue reading

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Tip 138: maple syrup urine disease (MSUD)

The prevelance of MSUD is 1:116,000 in the UK. It is an autosomal recessive condition caused by defects in a group of enzymes called the ‘branched chain 2-ketoacid dehydrogenase complex’, which normally break down the amino acids leucine, isoleucine and … Continue reading

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