In 1964 Andreas Rett published the first account of a family with benign familial neonatal convulsions (BFNC). The authors retraced Rett's family and report that the clinical and genetic features of this original family fit the currently accepted definitions of BFNC. They also consider the career of Dr. Rett, a researcher and social reformer as well as an advocate for the rights of children with developmental disabilities.

Prolonged tyrosyluria in the newborn and young baby should cause the clinical chemist not only to exclude tyrosinaemia, galactosaemia, and fructose intolerance but also to look carefully for hawkinsin in the aminoacid chromatogram.

Although the name of Andreas Rett is familiar to many from his eponymous neurogenetic syndrome, his other achievements involving the care of disabled children deserve special attention. His tireless advocacy helped to bring fundamental changes in the medical and societal attitude toward disabled individuals in a city that had recently seen more than 7500 disabled children and inmates of psychiatric hospitals actively euthanized by National Socialist (Nazi) decree. Most notably, this study demonstrates the remarkable changes that can be achieved single-handedly by a vocal and energetic physician. Yet at the same time, several instances are recorded in which Rett appeared to prioritize his own professional advancement at the expense of truthful disclosure of his own past, as well as that of some of his close associates. Dr Rett's professional life and contributions, now 10 years after his death, presents a compelling object lesson for neurologists and others involved in the care of the disabled.

A Turkish boy had suffered since the age of 10 months from recurrent attacks of severe metabolic acidosis and hypoglycaemia precipitated by moderate respiratory tract infections. A liver biopsy showed lack of fructose 1,6-diphosphatase and absence of phosphorylase. The patient died in shock following fructose ingestion. Upon fasting, acidosis with increased lactate and glycerol excretion was found. Findings indicate that, in this inherited disorder of gluconeogenesis, lactic acidosis combined with increased glycerol excretion upon fasting are of diagnostic importance.

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