Psy37 - Systematic Literature Review on the Worldwide Epidemiology of Propionic Acidemia

Almási, Tímea; Guey, Lin T.; Lukacs, C.M.; Csetneki, Kata; Vokó, Zoltán; Zelei, Tamás

doi:10.1016/j.jval.2018.09.2614

Cited by 2 publications

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“…OAMD was the predominant category of IEMs in hospitalized newborns in our study, with MMA exhibiting the highest incidence rate. The global incidence of MMA varied greatly, registering approximately 1/81,967 in Europe, 1/16,556 in the Middle East and North Africa (Almási et al, 2019), and 1/36,376 in Japan (Yamaguchi, 2008). Notably, the incidence in China was higher, yet substantial regional disparities were evident.…”

Section: Discussionmentioning

confidence: 99%

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Wang,

Zhang,

Yang

et al. 2024

Front. Genet.

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Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,840 newborn patients admitted for various medical conditions at the Children’s Hospital of Chongqing Medical University from January 2017 and December 2022. Liquid chromatography-tandem mass spectrometry (LC-MS/MS), gas chromatography-mass spectrometry (GC-MS/MS), and genetic analysis were used to elucidate the disease spectrum, incidence rate, and genetic characteristics of IEMs in hospitalized newborns. The results revealed that the incidence of IEMs in hospitalized newborns was 1/377 (58/21,840), with a higher incidence in full-term infants (1/428) than in premature infants (1/3,120). Among the diagnosed genetic metabolic diseases, organic acid metabolism disorders (1/662), amino acid metabolism disorders (1/950), and fatty acid oxidation disorders (1/10,920) were the most prevalent. Methylmalonic acidemia (MMA), especially the isolated form, emerged as the most common IEM, while neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and ornithine transcarbamylase deficiency (OTCD) were prevalent in premature infants. Of the 58 confirmed cases of IEMs, 72 variants were identified, of which 31.94% (23/72) had not been reported previously. This study contributes to understanding the incidence and clinical features of IEMs in hospitalized newborns, offering more efficient strategies for screening and diagnosing these disorders.

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Section: Discussionmentioning

confidence: 99%

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Wang,

Zhang,

Yang

et al. 2024

Front. Genet.

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“…In the United States a case of the illness is presented on the contrary by each 35,000 births. [13], in the Arabia Saudita you a sick person can count for each 3,000 births. [14] The premiere of the AP can happen in the stage neonatal, or in more ages.…”

Section: Conditionmentioning

confidence: 99%

Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey

Benavente¹,

Leyva²,

Mesa³

2022

JFNS

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Justification: The acidemia propionica (AP) is one of the most frequent organic acidemias constitutes inside the congenital errors of the metabolism (CEM). The organic acidemias originates of congenital enzymatic defects that affect the catabolism of the ramified amino acids (AACR) valina, leucina, and isoleucina. In the case of the AP, the molecular damage resides in the deficiency of the activity carboxilasa of the propionil-CoA: an enzyme mitocondrial biotina-clerk that catalyzes the propionil-CoA transformation in metilmanolil-CoA, metabolic step that makes possible the degradation of the AACR valina and isoleucina, as well as of the sulfurated metionina and treonina. The precocious diagnosis of the AP is important to prevent the mental delay and the affected boy's death. Objective: To present the case of preescolar with diagnostic of AP from the birth with favorable evolution, in spite of their multiple revenues with secondary states of extreme graveness to disproportionates. Clinical case: Patient of four years of age that began to present rejection to the foods, vomits and retard of the psychomotor development from the birth. The first revenues were motivated by dehydrations and severe metabolic acidosis, with neurological manifestations that took it to the coma in an opportunity. She was carried out the diagnosis of AP and doctors began the necessary and correct dietary treatment. Conclusions: Before a patient with neurological manifestations that could made a mistake with a sharp intoxication in the stage neonatal, accompanied by vomits, retard of the growth, metabolic acidosis of not very clear cause, it should be suspected the acidemia or aciduria propionica or any other of the CEM. Nutritional improvement was observed and of the psychomotor development after the introduction of a diet free of proteins and leaning with supplements of vitamins.

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Psy37 - Systematic Literature Review on the Worldwide Epidemiology of Propionic Acidemia

Cited by 2 publications

References 0 publications

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey

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