UDP7 (NDUFAF6) was referred to the study at 5 months of age with asymmetric early onset growth restriction, central hypotonia, proximal renal tubular dysfunction, macrocytic anaemia, severe exocrine pancreatic insufficiency, liver dysfunction with cholestasis and mild persistent elevated lactate in CSF and blood. The gene discussed is NDUFAF6; the disease is exocrine pancreatic insufficiency.