Neurological manifestations are very common and can be the leading and/or presenting
feature in organic acid disorders, sometimes in the absence of metabolic derangement …

White matter abnormalities (including dys-, hypo-, demyelination and delayed myelation) are
frequently found in cerebral organic acid disorders, a recently delineated subgroup of …

Laboratory findings are an essential part of the diagnostic approach to organic acidemias. In
most organic acidemias, metabolism of glucose, ketone bodies, and ammonia is deranged …

Organic acidemias are disorders of intermediary metabolism that lead to accumulation of
organic acids in biologic fluids, disturb acid-base balance, and derange intracellular …

The Inborn Errors of Metabolism and Neurology Services of the King Faisal Specialist
Hospital and Research Centre (KFSH&RC) and Armed Forces Hospital have received more …

Most genetic causes of neurodegenerative disorders in childhood are due to
neurometabolic disease. There are over 200 disorders, including aminoacidopathies …

Seven inborn errors are described in this chapter: Hyperlysinemia I/hyperlysinemia II or
saccharopinuria, hydroxylysinuria and 2-amino-/2-oxo-adipic aciduria may all have no …

The most common neurometabolic disorders to be considered are organic acidurias and
amino acid apathies followed by urea cycle disorders, congenital lactic acidosis …

Over the last 5 years the Pediatric Neurology service at King Faisal Specialist Hospital and
Research Centre (KFSH & RC) has seen 131 infants and children with movement disorders …

Concentrations of organic acids in cerebrospinal fluid (CSF) appear to be directly dependent
upon their rate of production in the brain. There is evidence that the net release of short …