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 …

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 …

Case 1 Case 1 was a 5-year-old boy with unrelated parents and no family history of disease,
who was bom at term after a normal gestation. Macrocephaly was noted at birth; head …

Glutaric aciduria type I (GA‐I) is an inborn error in the degradation of lysine, hydroxylysine,
and tryptophan due to a defiency of glutary‐CoA dehydrogenase. Glutaric, 3‐OH‐glutaric …

An infant girl was demonstrated to have D-2-hydroxyglutaric aciduria, the fifth case
described and the first with muscle biopsy of this rare organic aciduria that differs clinically …

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 …

Two cases of glutaric aciduria type 1 (GA 1) are presented. GA 1 is probably
underdiagnosed and misdiagnosed, and may explain a proportion of cases of …

Two siblings presented with macrocephaly, psychomotor delay, and progressive dystonia.
The initial diagnosis was of hydrocephalus and bilateral temporal cerebrospinal fluid …

The results of CT and/or MRI of the brain in 107 patients with different types of organic
acidemia are presented. The CSF spaces were wide in more than two-thirds of the patients …

The authors report a 3-year-old male with glutaric aciduria type II, whose magnetic
resonance imaging studies revealed agenesis of the cerebellar vermis and hypoplastic …