Glutaric aciduria type 2 presenting with acute respiratory failure in an adult

Ersoy, Ebru; Rama, Dorina; Ünal, Özlem; Sivri, Serap; Topeli, Arzu

doi:10.1016/j.rmcr.2015.02.009

Cited by 9 publications

(11 citation statements)

References 10 publications

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“…It results from the deficiency of any one of the three molecules: the alpha (ETFA) or beta (ETFB) sub-units of electron transfer flavoprotein, or electron transfer flavoprotein dehydrogenase (ETFDH) [ 1 ]. The former two are associated with neonatal forms and the latter one with older age groups [ 2 ]. The three main clinical phenotypes of GA-II are the neonatal form with congenital anomalies, neonatal form without congenital anomalies, and older onset age-group with myopathic phenotype, and rarely, metabolic acidosis [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Glutaric Aciduria Type II With Ketosis in a Male Infant

Tandon

Patel

et al. 2021

Cureus

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Glutaric aciduria type II (GA II) also known as multiple acyl-CoA dehydrogenase deficiency is an inborn metabolic disorder belonging to the family of organic acidurias. It is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. Tandem mass spectrometry (TMS) acts as a screening tool, while the diagnosis of GA-II with ketosis is confirmed by a combination of tests like organic acids, quantitative random urine, and a full urine panel. Early diagnosis, compliance to specialized diet, affordability, and regular follow-ups are required to tackle this potentially life-threatening condition. Herein, we report a case of glutaric aciduria type-II with ketosis in a 4.5 months old male infant who was managed with a low-protein diet, which was free of tryptophan, lysine, and other specific dietary supplements.

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Section: Introductionmentioning

confidence: 99%

Glutaric Aciduria Type II With Ketosis in a Male Infant

Tandon

Patel

et al. 2021

Cureus

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“…However, some researchers recently identified defects in the FAD synthase gene (FLAD1) involved in GA II onset [3,4]. The ETF/ETFDH deficiencies are responsible for multiple defects of the dehydrogenation system because they block not only fatty acid oxidation, but also the oxidation of branched-chain amino acids and glutaryl-CoA on the catabolic pathway of lysine, hydroxylysine, and tryptophan [5]. The genes for ETFα, ETFβ and ETFDH proteins (ETFA, ETFB, and ETFDH, respectively) were mapped to 15p23-25, 19q13.1 and 4q33, respectively.…”

Section: Introductionmentioning

confidence: 99%

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family

Zhu²,

Zhang

et al. 2020

BMC Med Genet

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Background: Glutaric acidemia type II (GA II) or multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to mutations in one of three genes namely, electron transfer flavoprotein alpha-subunit, ETFA, electron transfer flavoprotein β-subunit, ETFB and electron transfer flavoprotein dehydrogenase, ETFDH. Currently, few studies have reported genetic profiling of neonatal-onset GA II. This study aimed to identify the genetic mutations in a Chinese family with GA II. Case presentation: We reported a case of GA II with purulent meningitis and septicemia and identified a novel ETFDH gene mutation in a female infant. The patient developed an episode of hypoglycemia and hypotonicity on the postnatal first day. Laboratory investigations revealed elevations of multiple acylcarnitines indicating glutaric acidemia type II in newborn screening analysis. Urinary organic acids were evaluated for the confirmation and revealed a high glutaric acid excretion. Genetic analysis revealed two mutations in the ETFDH gene (c.623_626 del / c. 1399G > C), which were considered to be the etiology for the disease. The novel mutation c.623_626 del was identified in the proband infant and her father, her mother was carriers of the mutation c.1399G > C. Conclusions: A novel variant (c.623_626 del) and a previously reported missense (c.1399G > C) in the ETFDH gene have been identified in the family. The two variants of ETFDH gene identified probably underlie the pathogenesis of Glutaric acidemia type II in this family, and also enlarge ETFDH genotype-phenotype correlations spectrum.

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“…Because of the pathophysiology of the disease, most of these patients experience severe respiratory distress in the emergency department and need careful assessment and special care, such as airway management, respiratory monitoring, and oxygen therapy (Gowda et al 2018;Abbas et al 2018). They may be admitted to the intensive care unit (ICU) because of acute respiratory problems related to the progressive nature of the disease (Ersoy et al 2015). After ICU admission, appropriate respiratory nursing care, such as respiratory physiotherapy and airway suctioning is needed.…”

Section: Introductionmentioning

confidence: 99%

“…Also, fluid intake should be sufficient to prevent the development of respiratory distress. Other nursing care practices are breath control training, soft diet, and teaching proper swallowing techniques to prevent aspiration, communication techniques training, and promoting self-care activities (Ersoy et al 2015).…”

Section: Introductionmentioning

confidence: 99%

Fazio-Londe Syndrome and Patient-centered Nursing Care: A Case Report

Abdi

Jolfaei

Ghasemi

et al. 2020

JCCNC

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Introduction: Fazio-Londe disease is a genetic rare disorder manifesting by acute respiratory distress. This article is a case report of Fazio-Londe syndrome, its comparison with other case reports in the literature, and its patient-centered nursing care. Case presentation: In this study, we reported a case with Fazio-Londe syndrome with respiratory distress, bulbar palsy, muscle weakness, and other symptoms. Management and outcome: The patient was treated with oral riboflavin (100 mg/day), ribavirin (200 mg/day), and intramuscular Vit-B12 (1000 mg/day). She was managed using a patient-centered nursing care model. Discussion: Health care providers should be aware of the new and constant symptoms of this rare disease. A patient-centered nursing care model is suggested to manage the disease.

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Glutaric aciduria type 2 presenting with acute respiratory failure in an adult

Cited by 9 publications

References 10 publications

Glutaric Aciduria Type II With Ketosis in a Male Infant

Glutaric Aciduria Type II With Ketosis in a Male Infant

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family

Fazio-Londe Syndrome and Patient-centered Nursing Care: A Case Report

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