Laboratory Diagnosis of 1,4-BD and GHB Overdose by Routine Urine Organic Acid Analysis

2005 ◽  
Vol 43 (4) ◽  
pp. 321-323 ◽  
Keyword(s):  
Organic Acid ◽  
Laboratory Diagnosis ◽  
Urine Organic Acid Analysis ◽  
Organic Acid Analysis ◽  
Urine Organic Acid

Organic acid disorders detected by urine organic acid analysis: Twelve cases in Thailand over three-year experience

2008 ◽  
Vol 392 (1-2) ◽  
pp. 63-68 ◽  
Author(s):  
Pornswan Wasant ◽  
Somporn Liammongkolkul ◽  
Chulaluck Kuptanon ◽  
Nithiwat Vatanavicharn ◽  
Achara Sathienkijakanchai ◽  
...  
Keyword(s):  
Organic Acid ◽  
Urine Organic Acid Analysis ◽  
Organic Acid Analysis ◽  
Urine Organic Acid

scholarly journals Inherited metabolic diseases in the urine organic acid analysis of complex febrile seizure patients

2009 ◽  
Vol 52 (2) ◽  
pp. 199
Author(s):  
Hee Jeong Cheong ◽  
Hye Rim Kim ◽  
Seong Soo Lee ◽  
Eun Joo Bae ◽  
Won Il Park ◽  
...  
Keyword(s):  
Organic Acid ◽  
Febrile Seizure ◽  
Metabolic Diseases ◽  
Inherited Metabolic Diseases ◽  
Urine Organic Acid Analysis ◽  
Organic Acid Analysis ◽  
Urine Organic Acid

A rare progressive neurometabolic disease (L-2-hydroxyglutaric aciduria) diagnosed by urinary organic acid analysis

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
S Vlaho ◽  
S Posselt ◽  
V Boda ◽  
M Baz Bartels ◽  
S Parbel ◽  
...  
Keyword(s):  
Organic Acid ◽  
Urinary Organic Acid ◽  
Organic Acid Analysis ◽  
Urinary Organic Acid Analysis

Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area

2021 ◽  
Author(s):  
Tsz-Ki Ling ◽  
Ka-Chung Wong ◽  
Candace Yim Chan ◽  
Nike Kwai-Cheung Lau ◽  
Chun-yiu Law ◽  
...  
Keyword(s):  
Amino Acid ◽  
Organic Acid ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
High Prevalence ◽  
Urine Organic Acid

Pitfalls in aminoacid and organic acid analysis: 3-Hydroxypropionic aciduria

1994 ◽  
Vol 153 (S1) ◽  
pp. S23-S26 ◽  
Author(s):  
C. Bachmann ◽  
O. Boulat ◽  
B. J. Meyrat ◽  
J. P. Colombo ◽  
P. Pilloud
Keyword(s):  
Organic Acid ◽  
Organic Acid Analysis

scholarly journals Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Hao Liu ◽  
Jing-kun Miao ◽  
Chao-wen Yu ◽  
Ke-xing Wan ◽  
Juan Zhang ◽  
...  
Keyword(s):  
Organic Acid ◽  
Severe Case ◽  
Good Prognosis ◽  
Blood Purification ◽  
Acute Episode ◽  
Compound Heterozygous Mutation ◽  
Special Treatment ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Urine Organic Acid

Abstract Background Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is an autosomal recessive inborn error of metabolism, which will give rise to failure of ketogenesis in liver during illness or fasting. It is a very rare disease with only a few patients reported worldwide, most of which had a good prognosis after proper therapies. Case presentation We report a 9-month-old boy with mHS deficiency presenting with unusually severe and persistent acidosis after diarrhea and reduced oral food intake. The metabolic acidosis persisted even after supplementation with sugar and alkaline solution. Blood purification and assisted respiration alleviated symptoms, but a second onset induced by respiratory infection several days later led to multiple organ failure and death. Urine organic acid analysis during the acute episode revealed a complex pattern of ketogenic dicarboxylic and 3-hydroxydicarboxylic aciduria with prominent elevation of glutaric acid and adipic acid, which seem to be specific to mHS deficiency. Plasma acylcarnitine analysis revealed elevated 3-hydroxybutyrylcarnitine and acetylcarnitine. This is the first report of elevated 3-hydroxybutyrylcarnitine in mHS deficiency. Whole exome sequencing revealed a novel compound heterozygous mutation in HMGCS2 (c.100C > T and c.1465delA). Conclusion This severe case suggests the need for patients with mHS deficiency to avoid recurrent illness because it can induce severe metabolic crisis, possibly leading to death. Such patients may also require special treatment, such as blood purification. Urine organic acid profile during the acute episode may give a hint to the disease.

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