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Chapter: Paediatrics: Neonatology

Inborn errors of metabolism

The common presentations of IEM are as follows: • Encephalopathy without metabolic acidosis: e.g. pyridoxine-dependent seizures, urea cycle enzyme defects;

Inborn errors of metabolism

 

The common presentations of IEM are as follows:

 

Encephalopathy without metabolic acidosis: e.g. pyridoxine-dependent seizures, urea cycle enzyme defects;

 

Encephalopathy with metabolic acidosis: e.g. organic acidurias;

 

Hepatic failure: e.g. galactosaemia;

 

Non-immune hydrops: can be haematological, e.g. β-thalassaemia, or due to lysosomal storage disorder, e.g. Gaucher disease;

 

Significant dysmorphism: these can be divided into: lysosomal disorders, e.g. mucopolysaccharidosis; peroxisomal disorders, e.g. Zellweger syndrome; mitochondrial disorders; biosynthetic defects, e.g. albinism; receptor defects, e.g. pseudo-hypoparathyroidism;

 

Other: non-specific illness; severe hypotonia; resistant hypoglycaemia; cataracts; odours; cardiomyopathy; severe diarrhoea.

 

 

Investigations

 

Initial: blood for U&E, SBR, gas analysis, glucose, Ca2+, Hb, ammonia, and anion gap (normal range 12–16mmol/L). Urine for ketones and reducing substances.

‘Metabolic screen’ (for amino acid and organic acid analysis): take and save blood in heparinized (1–2mL) and EDTA (3–5mL) tubes and save urine (5–10mL) in sterile container with no preservatives.

Subsequent investigation after discussion with expert: if child dies prior to diagnosis, seek permission to take:

   further blood for storage (clotted and heparinized);

   skin biopsy placed in sterile saline;

   liver and muscle biopsy;

   send immediately to pathology laboratory for preservation.

 

Acute management

 

Supportive.

Stop all protein intake, including milk, and start 10% glucose IV infusion.

Correct electrolyte/acid-base imbalance.

Broad spectrum antibiotics in case crisis was precipitated by infection.

Specific treatments after expert advice.

 

Prognosis

Depends on disease.

 

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