Results 171 to 180 of about 4,483 (224)

Neuroimaging findings in glutaric aciduria type 1

Pediatric Radiology, 2003
To review the imaging features of glutaric aciduria type 1 (GA-1) in a group of 20 patients, the largest published series to date. To document the findings not previously reported and compare our findings with the imaging characteristics of GA-1 previously reported in the literature.For 14 patients the original scans were examined and in the remaining ...
Eilish L, Twomey, Eileen R, Naughten, Veronica B, Donoghue, Stephanie, Ryan   +3 more
openaire   +2 more sources

Reversible brain atrophy in glutaric aciduria type 1

Brain and Development, 2017
Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. The typical clinical onset features an acute encephalopathic crisis developed in early childhood, causing irreversible striatal injury. Recently, tandem mass spectrometry of spots of dried blood has allowed pre-symptomatic detection of GA1 ...
Yurika, Numata-Uematsu, Osamu, Sakamoto, Yosuke, Kakisaka, Yukimune, Okubo, Yoshitsugu, Oikawa, Natsuko, Arai-Ichinoi, Shigeo, Kure, Mitsugu, Uematsu   +7 more
openaire   +2 more sources

Odd‐Chain Dicarboxylic Acid Feeding Produces a Glutaric Aciduria Type 1–Like Metabolic Signature in Mice

The FASEB Journal
Glutaric aciduria type‐1 (GA1) is an inherited mitochondrial neurometabolic disorder with a poorly understood pathogenesis and unmet medical needs.
Adam C. Richert, Yuxun Zhang, Sivakama S Bharathi, Abigail Hernandez, Tetyana Dodatko, J. Bons, Kayla E Roundtree, Brandon Stauffer, Chunli Yu, Birgit Schilling, Sander M. Houten, Eric S. Goetzman   +11 more
semanticscholar   +1 more source

Glutaric Aciduria Type 1

1995
Glutaric aciduria type 1 is a rare autosomal recessive metabolic disorder with highly variable clinical symptomatology.
Marjo S. van der Knaap, Jacob Valk
openaire   +1 more source

Glutaric aciduria type-1 in a teenager with nutritional vitamin B12 deficiency: coexistence of two treatable conditions

BMJ Case Reports
Nutritional deficiency-associated morbidity is still widespread in India and occurs due to various factors like lifestyle, diet and social and cultural issues.
V. Gowda, Amaresh Roy, V. R. Challa, Varunvenkat M. Srinivasan, Saini Jitender   +4 more
semanticscholar   +1 more source

Glutaric Aciduria Type 1 and Nonaccidental Head Injury

Pediatrics, 2001
Subdural hemorrhage has been a recognized manifestation of nonaccidental injury in childhood (NAI) since 1860.1 The presence of subdural collections, often with coexisting retinal hemorrhages, fractures, and multiple traumatic injury, greatly raise the clinical index of suspicion for child abuse.2–5 The finding of subdural blood in an infant presents a
L. M. Hartley, BCh, MRCP, O. S. Khwaja, C. M. Verity, BCh, FRCPCH   +4 more
openaire   +2 more sources

Glutaric aciduria type 1

2013
Clinical History: An 11-month-old child presented to the ER with fever, seizure, dystonia and quadriparesis. On initial examination the patient was dehydrated, hypotonic and had normal cranial size (normocephalic). Her mother reported a history of an attack of gastroenteri...
openaire   +1 more source

Glutaric aciduria type 1: Proton magnetic resonance spectroscopy findings

Pediatric Neurology, 2004
Glutaric aciduria type 1 is an inborn error of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-coenzyme A dehydrogenase. The disease often appears in infancy with an encephalopathic episode that results in acute basal ganglia and white matter degeneration. The neuroimaging findings in glutaric aciduria type 1 have been
Kurul, S, Cakmakci, H, Dirik, E
openaire   +3 more sources

Glutaric aciduria type 1: neuroimaging features with clinical correlation

Pediatric Radiology, 2015
Glutaric aciduria type 1 is a rare neurometabolic disease with high morbidity.To describe the MR imaging abnormalities in glutaric aciduria type 1 and to identify any association between the clinical and imaging features.MRI scans of 29 children (mean age: 16.9 months) with confirmed diagnosis of glutaric aciduria type 1 were retrospectively reviewed ...
Shaimaa Abdelsattar, Mohammad, Heba Salah, Abdelkhalek, Khaled A, Ahmed, Osama K, Zaki   +3 more
openaire   +2 more sources

Glutaric aciduria type 1: biochemical investigations and postmortem findings

European Journal of Pediatrics, 1986
Glutaric aciduria type 1 (GA1; deficiency of glutaryl - CoA dehydrogenase) was diagnosed in a 6.5-month-old female infant. Despite a good biochemical response to dietary reduction of lysine and tryptophan, there was no clinical response to diet nor to riboflavin therapy and her neurological condition deteriorated progressively until her death at 10.5 ...
Bennett, MJ, Marlow, N, Pollitt, RJ, Wales, Jkh   +3 more
openaire   +3 more sources