Category Archives: Metabolic

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 134: MCAD

MCAD (medium chain acyl-CoA dehydrogenase) deficiency is the most common fatty oxidation defect and is inherited in an autosomal recessive fashion. It became part of the UK newborn screening programme in 2009. The deficient enzyme is part of the β-oxidation pathway, which … Continue reading

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Tip 133: expanded newborn screening programme (UK)

In early 2015, the UK National Screening Committee added an additional four inherited metabolic diseases to the newborn bloodspot screening programme. These are: maple syrup urine disease (MSUD) homocystinuria (pyridoxine unresponsive) (HCU) isovaleric acidaemia (IVA) glutaric aciduria type 1 (GA1) External … Continue reading

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Tip 127: urea cycle disorders

Urea cycle disorders usually present in the neonatal period with vomiting, then progressive encephalopathy (lethargy, seizures, unconsciousness). They have hyperammonaemia in the absence of acidosis. Reference: Rennie & Roberton’s Textbook of Neonatology, 5th Ed, 2012. London: Churchill.

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Tip 74: phenylketonuria (PKU)

PKU is caused by mutation to the phenylalanine hydroxlase (PAH) gene on chromosome 12q. It has autosomal recessive inheritance. Incidence is ~1:10,000 – 1:15,000 (USA). Early and life-long treatment with a low phenylalanine diet prevents serious outcomes (intellectual disability, seizures). … Continue reading

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Tip 70: hyponatraemia in preterm babies

Hyponatraemia is common in preterm babies, with up to a third of very low birth weight infants being hyponatraemic in the first week after birth. This is commonly due to: impaired reabsorption of sodium at the proximal tubule; immature up-and-down … Continue reading

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Tip 56: hyperglycaemia in prematurity

Hyperglycaemia has been estimated to occur in 45% to 80% of premature infants. The underlying mechanisms causing hyperglycaemia are multifactorial and may be the result of high glucose concentrations in the infusion fluids or low glucose uptake rate. Other causes … Continue reading

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