Hyperlysinaemia. Harmless inborn error of metabolism?

A new type of hyperlysinaemia due to a transport defect of lysine into mitochondria

“…Patients with persistent hyperlysinaemia previously reported by Woody (1964) and Ghadimi and colleagues (1965) had mental and motor retardation, but subsequent cases of this syndrome reported by Gelderen and Teijema (1973) had normal development. The relationship between hyperlysinaemia and clinical manifestation is still unknown.…”

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency

“…It is not known if the physical and neurological abnormalities are a feature of the disease or if they are not causally related. The normal neurodevelopment observed in half of patients with familial hyperlysinemia identified through newborn screening programmes or family surveys of previously diagnosed cases supports the latter statement [7,8].…”

“…Mental disability, epilepsy and EEG abnormalities are clinical features that have been previously associated with familial hyperlysinemia [4][5][6][7]. Moreover, many cases with familial hyperlysinemia have been of small stature.…”

“…No clinical differences have been reported amongst type I and type II hyperlysinemia and classification is made according to their biochemical profile [4]. Regarding type I, approximately 50% of the reported probands are asymptomatic [7]. In fact, the primary question may be whether this metabolic disturbance represents a true disease or an anecdotic biochemical finding that is unrelated to the clinical phenotype.…”

A Multicentered Study of Lysine Therapy in Herpes simplex Infection

“…Man is totally dependent on his diet as a source of lysine [13]. Variations in absorption and excretion of lysine have been reported [21,24,25,30]. Improper food selection may make adequate lysine intake precarious for some individuals [16].…”