High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure.

OTCD can present with ALF at any age. Under adequate therapy symptoms resolve quickly. We report a three-yr-old girl with the manifestation of an OTCD as ALF.

Increased cerebellar volume in the early stage of fucosidosis: a case control study.

Introduction: Yet unreported in this lysosomal storage disease, we aimed to quantify our observation that patients with fucosidosis may show abnormally increased cerebellar volumes during early childhood.

Methods: Five normocephalic fucosidosis patients (age range 2-25 months, three males) were included in this retrospective case control study. The control cohort consisted of 25 children (age range 0-36 months, 15 males).

Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis.

Fucosidosis is a rare autosomal recessive lysosomal storage disease, resulting from a deficiency of alpha- L-fucosidase. We report on the clinical and MRI findings of a girl with this disorder. Developmental delay became obvious at an age between 6 and 12 months.

Emergency management of inherited metabolic diseases.

Inherited metabolic diseases with acute severe manifestations can be divided into five categories: (1) disorders of the intoxication type, (2) disorders with reduced fasting tolerance, (3) disorders with disturbed energy metabolism, (4) disorders of neurotransmission and (5) disorders in which no specific emergency treatment is available. Diagnostic emergency laboratory evaluation should cover all differential diagnoses that are therapeutically relevant and should always include ammonia, glucose, lactate and acid-base status as well as testing the urine for ketones. These are indispensable for planning and conducting the first steps of metabolic emergency treatment and should be available within 30 min.