Three inborn errors in the pentose phosphate pathway (PPP) are known.
Glucose-6-phosphate dehydrogenase deficiency is a defect in the first, irreversible step of the pathway. As a consequence NADPH production is decreased, making erythrocytes vulnerable to oxidative stress. Drug- and fava bean-induced haemolytic anaemia is the main presenting symptom of this defect. G6PD deficiency is an X-linked disorder. As this is a haematological disorder, it is not discussed further.
Deficiency of ribose-5-phosphate isomerase has been described in one patient who presented with developmental delay and a slowly progressive leucoencephalopathy.
Transaldolase deficiency has been diagnosed in 19 unrelated families. All patients presented in the neonatal or antenatal period with hepatosplenomegaly, liver function problems, hepatic fibrosis and haemolytic anaemia.
Moreover, the most common 57-kb deletion in nephropathic cystinosis patients has been shown to also cause deficiency of sedoheptulokinase, resulting in urinary accumulation of sedoheptulose.
In this chapter we focus on the two recently reported defects, namely, deficiency of ribose-5-phosphate isomerase (RPI) and transaldolase (TALDO) deficiency
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