Category Archives: Metabolic

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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Tip 21b: maternal diabetes

The rates of all of the following are significantly higher in women with diabetes or their babies compared to matched controls: Preterm birth (31% vs. 10%) Macrosomia (41% vs. 16%) Hypoglycaemia (14% vs. 1%) Jaundice (46% vs. 23%) Respiratory distress (12% vs. 1%). … Continue reading

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Tip 16: metabolic bone disease of prematurity

Premature babies are at risk of osteopenia due to lack of minerals normally accumulated in the last trimester. This increases the risk of fractures in the short-term and short stature in the long-term. All enterally fed very preterm babies should … Continue reading

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Tip 11: congenital adrenal hyperplasia

Incidence is 1:18,000 (girls=boys) ~90% have 21-hydroxylase deficiency ~50% present as a neonate (girls mainly with virilised genitalia, boys mainly with salt-wasting crisis) External links: Khalid, JM., et al. Incidence and clinical features of congenital adrenal hyperplasia in Great Britain. Arch … Continue reading

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Tip 8: jaundice

According to the NICE guidelines: ~60% of term and 80% of preterm babies develop jaundice in the first week of life ~10% of breastfed babies are still jaundiced at 1 month of age Reference: NICE. Jaundice in newborn babies under … Continue reading

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