scholarly journals A rare case of type i glutaric aciduria in an early child

2020 ◽  
Vol 11 (4) ◽  
pp. 84-91
Author(s):  
A. A. Lebedenko ◽  
S. B. Berezhanskay ◽  
A. S. Todorova ◽  
N. N. Vostrykh ◽  
E. Y. Kaushanskay ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Late Onset ◽  
Clinical Manifestations ◽  
Glutaric Aciduria Type ◽  
Organic Aciduria ◽  
Type I ◽  
Gene Encoding ◽  
Glutaric Aciduria ◽  
Phenotypic Spectrum ◽  
Rare Autosomal Recessive Disease

Glutaric aciduria type I (deficiency of glutaryl-COA dehydrogenase, glutaric acidemia type I) is a rare autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl – COA - dehydrogenase (GCDH). Cerebral organic aciduria, caused by a deficiency of glutaryl-COA - dehydrogenase, is generally considered a neurological disorder.The phenotypic spectrum of untreated GA-1 varies from a more common and pronounced form (a disease with infancy) to a low-symptom and less common form. In people with the same genotype, the clinical manifestations and depth of CNS damage can vary widely depending on the age of manifestation of acute encephalopathic crises. It is assumed that with early detection and treatment of “asymptomatic” newborns (in the context of screening for this disease), most people who would have developed manifestations of GA-1 with childhood or late onset will remain asymptomatic. 

Hypothesis: A Role for Quinolinic Acid in the Neuropathology of Glutaric Aciduria Type I

1987 ◽  
Vol 14 (S3) ◽  
pp. 441-443 ◽  
Author(s):  
Melvyn P. Heyes
Keyword(s):  
Quinolinic Acid ◽  
Autosomal Recessive ◽  
Glutaric Aciduria Type ◽  
Mass Action ◽  
Type I ◽  
Law Of Mass Action ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
The Central Nervous System ◽  
The Brain

ABSTRACT:Glutaric aciduria type I is an autosomal recessive metabolic disorder of children associated with severe dystonic motor disturbances and degeneration in the cerebral cortex, striatum and cerebellum. Biochemical studies demonstrate a deficiency in the enzyme glutaryl-CoA dehydrogenase. This enzyme metabolizes substrate derived from dietary tryptophan that could otherwise be converted to quinolinic acid within the brain. The law of mass action predicts that the production of quinolinic acid should be increased in glutaric aciduria type I. Quinolinic acid is a potent neurotoxin and convulsant when it is injected into the central nervous system of experimental animals. This paper argues that quinolinic acid may accumulate within the brain and cause the neuropathology of glutaric aciduria type I.

Magnetic resonance imaging findings of adult-onset glutaric aciduria type I

2007 ◽  
Vol 48 (5) ◽  
pp. 557-559 ◽  
Author(s):  
G. Sonmez ◽  
H. Mutlu ◽  
E. Ozturk ◽  
H. O. Sildiroglu ◽  
A. T. Keskin ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Glutaric Aciduria ◽  
Glutaric Acidemia Type I ◽  
Glutaric Aciduria Type I

Glutaric aciduria or glutaric acidemia type I, an autosomal recessive disease, usually presents with an acute encephalopathic crisis in young children. We report the magnetic resonance (MR) and proton MR spectroscopy (MRS) imaging findings of a previously healthy 20-year-old man who presented with recurrent headaches. Organic acids from the patient's urine contained large amounts of adipate, glutarate, and 3-hydroxyglutarate consistent with glutaric aciduria type I.

Glutaric Aciduria Type I

2016 ◽  
Author(s):  
Stefan Kölker
Keyword(s):  
Clinical Symptoms ◽  
Neurological Complications ◽  
Glutaric Aciduria Type ◽  
Organic Aciduria ◽  
Type I ◽  
Hand Tremor ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
Asymptomatic Patients ◽  
Cranial Mri

Glutaric aciduria type I is a rare organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme involved in the final common catabolic pathways of L-lysine, L-hydroxylysine, and L-trytophan. The majority of untreated patients develop striatal injury and secondary dystonia during infancy and childhood, whereas identification by newborn screening and immediate start of metabolic treatment (low-lysine diet, carnitine supplementation, metabolic emergency treatment) helps to prevent severe neurological complications in the majority of patients. The morbidity and mortality of dystonic patients is high, whereas asymptomatic patients have normal life expectancy. Effective antidystonic treatment requires a multidisciplinary approach. In a subgroup of patients, first clinical symptoms (headaches, vertigo, gait disturbance, hand tremor) may not manifest before adulthood. Cranial MRI studies in these patients reveal T2 hyperintensities of supratentorial white matter. A few women with glutaric aciduria type I have had unremarkable pregnancies, deliveries, and postpartal periods.

scholarly journals Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

2014 ◽  
pp. 85-92 ◽  
Author(s):  
M. J. Fraidakis ◽  
C. Liadinioti ◽  
L. Stefanis ◽  
A. Dinopoulos ◽  
R. Pons ◽  
...  
Keyword(s):  
Late Onset ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

scholarly journals Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

2017 ◽  
Vol 12 (1) ◽  
Author(s):  
Nikolas Boy ◽  
Jana Heringer ◽  
Renate Brackmann ◽  
Olaf Bodamer ◽  
Angelika Seitz ◽  
...  
Keyword(s):  
Late Onset ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl

2003 ◽  
Vol 18 (9) ◽  
pp. 1076-1079 ◽  
Author(s):  
Emilio Fernández-Álvarez ◽  
Angeles García-Cazorla ◽  
Anna Sans ◽  
Cristina Boix ◽  
María Antonia Vilaseca ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Glutaric Aciduria Type ◽  
Young Girl ◽  
Type I ◽  
Orofacial Dyskinesia ◽  
Hand Tremor ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

scholarly journals Clinical and mutational spectrum of 4 Chinese families with glutaric aciduria type 1

2019 ◽  
Author(s):  
Xiaorong Shi ◽  
Qiaoyan Shao ◽  
Aidong Zheng ◽  
Wenghuang Xie
Keyword(s):  
Mutational Analysis ◽  
Southern China ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Glutaric Aciduria Type ◽  
Chinese Patients ◽  
Type I ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Molecular Aspects

Abstract Background To investigate clinical presentation and molecular aspects of five patients suffered from glutaric aciduria type I (GA-I ), a rare neurometabolic disorder caused by glutaryl-CoA dehydrogenase deficiency due to GCDH gene mutations. Methods All five patients were diagnosed by elevated urinary glutaric acid and GCDH gene analysis. Low protein diet supplemented with special formula, GABA analog and L-carnitine were initialed following laboratory confirmation of diagnosis. The clinical and biochemical features were analyzed, and mutational analysis of GCDH was conducted using Sanger sequencing. Results Clinical manifestations of 5 patients varied from macrocephaly to severe encephalopathy, with notably different phenotype between siblings with the same mutations. Three members present complex heterozygous mutations, while two sisters present homozygous mutations. Among them, four mutations in GCDH were identified (c.1133C>T 、c.1244-2A>C 、c.339delT 、c.406G>T). Of these four mutations, c.1244- 2A>C was found in four patients and c.339delT and c.1133C>T has not yet been reported until now. Conclusions In 5 Chinese patients with GA1, two novel mutations of GCDH gene were identified, which may expand the mutation spectrum of GCDH gene. What we found confirm that there is no correlation between clinical phenotype and genotype in GA-I patients, and c.1244-2A>C may be mutation hotspot in Southern China.

scholarly journals Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I

2017 ◽  
Vol 06 (03) ◽  
pp. 142-148 ◽  
Author(s):  
Shaik Muntaj ◽  
K. Devaraju ◽  
M. Kamate ◽  
A. Vedamurthy ◽  
Kruthika-Vinod TP
Keyword(s):  
Fragment Length Polymorphism ◽  
Glutaric Aciduria Type ◽  
Organic Aciduria ◽  
Common Mutation ◽  
Type I ◽  
Novel Mutations ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
Dehydrogenase Gene ◽  
Polymerase Chain

AbstractGlutaric aciduria type I (GA-I) is an organic aciduria caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. There are limited studies on GA-I from India. A total of 48 Indian GA-I patients were screened for selected disease-causing mutations such as R402W, A421V, A293T, R227P, and V400M using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Among these patients, 9 (18.8%) had R402W mutation, and none had A421V, A293T, R227P, or V400M mutation. One low excretor mutation (P286S) and several novel mutations (I152M, Q144P, and E414X) were also found in this study. We conclude that among selected mutations, R402W is the most common mutation found among Indian GA-I patients.

scholarly journals Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

2021 ◽  
Vol 7 (2) ◽  
pp. 32
Author(s):  
Johannes Spenger ◽  
Esther M. Maier ◽  
Katharina Wechselberger ◽  
Florian Bauder ◽  
Melanie Kocher ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Biological Diversity ◽  
False Negative ◽  
Autosomal Recessive Disorder ◽  
Dried Blood Spots ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Gene Encoding ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the GCDH gene encoding glutaryl-CoA-dehydrogenase. Newborn screening (NBS) for this condition is based on elevated levels of glutarylcarnitine (C5DC) in dried blood spots (DBS). Here we report four cases from three families in whom a correctly performed NBS did not detect the condition. Glutarylcarnitine concentrations were either normal (slightly below) or slightly above the cut-off. Ratios to other acylcarnitines were also not persistently elevated. Therefore, three cases were defined as screen negative, and one case was defined as normal, after a normal control DBS sample. One patient was diagnosed after an acute encephalopathic crisis, and the other three patients had an insidious onset of the disease. GA-1 was genetically confirmed in all cases. Despite extensive efforts to increase sensitivity and specificity of NBS for GA-1, by adjusting cut-offs and introducing various ratios, the biological diversity still leads to false-negative NBS results for GA-1.

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