Ebstein cardiac anomaly, functional pulmonary atresia and isovaleric acidemia: A case report

Qadi, Ammar; Hamadah, Hussam K; Jijeh, Abdulraouf; Hijazi, Omar; Kabbani, Mohamad S.

doi:10.1016/j.jsha.2014.01.004

Cited by 3 publications

(2 citation statements)

References 11 publications

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“…Frequency of metabolic decompensation seems higher in the neonatal-infancy period and decreases with age by late childhood or adolescence; which may be secondary to acquired immunity to common childhood illnesses or infections. Other co-morbidities include failure to thrive, myeloproliferative syndrome, pancytopenia, seizure, liver dysfunction, cardiopulmonary disorders, pancreatitis, Angelman and Fanconi syndromes (1,(6)(7)(8)(9)(10).…”

Section: Clinicalmentioning

confidence: 99%

Organic acid disorders

et al. 2018

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Organic acids (OAs) are intermediary products of several amino acid catabolism or degradation via multiple biochemical pathways for energy production. Vitamins or co-factors are often quintessential elements in such degradation pathways and OA metabolism. OAs that result from enzyme defects in these pathways can be identified in body fluids utilizing gas chromatography-mass spectrometry techniques (GC/MS). OAs are silent contributor to acid base imbalance and can affect nitrogen balance and recycling.Since OA production occurs in distal steps of a specific amino acid catabolism, offending amino acid accumulation is not characteristic. OA disorders as inborn errors of metabolism (IEM) are included in differential diagnosis of metabolic acidosis, as the common mnemonic MUDPILES taught in medical schools. High anion gap metabolic acidosis with hyperammonemia is a characteristic OA biochemical finding. VOMIT (valine, odd chain fatty acids, methionine, isoleucine, and threonine) is a smart acronym and a common clinical presentation of OA disorders and can present as early life-threatening illness, prior to Newborn Screening results availability. Easy identification and available medical formula make the field of metabolic nutrition vital for management of OA disorders. Treatment strategies also involve cofactor/ vitamin utilization to aid specific pathways and disorder management. Optimal metabolic control and regular monitoring is key to long-term management and prevention of morbidity, disability and mortality.Prompt utilization of acute illness protocol (AIP) or emergency protocol and disorder specific education of family members or caregivers, primary care physicians and local emergency health care facilities; cautiously addressing common childhood illnesses in patients with OA disorders, can help avoid poor short-and long-term morbidity, disability and mortality outcomes.

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Section: Clinicalmentioning

confidence: 99%

Organic acid disorders

et al. 2018

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“…The frequency of metabolic decompensation decreases with age, possibly due to acquired immunity [1]. Comorbidities include failure to thrive, myeloproliferative syndrome, pancytopenia, seizures, liver dysfunction, cardiopulmonary disorders, and pancreatitis [4][5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Isovaleric Acidemia in Jordan

Megdadi,

Alakil,

Ghanmiyin

et al. 2024

Cureus

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Background: Isovaleric acidemia (IVA) was the first condition to be recognized as an organic acid disorder. It is marked by metabolic ketoacidosis with an unexplained anion gap. This study examines IVA in Jordan, laying the groundwork for future studies. Furthermore, it seeks to enhance the understanding of clinical characteristics and outcomes in affected individuals.Method: This case series study includes all isovaleric acidemia diagnoses at the metabolic unit of the Queen Rania Al Abdullah Hospital for Children (QRHC) in Amman, Jordan, from 2010 to 2023. The study encompassed sociodemographic features, clinical and laboratory results, familial history, and parental consanguinity.Results: Our cohort was composed of 21 individuals (10 males and 11 females), who presented IVA at an average age of 3.1 years. Positive family history and parental consanguinity were observed in 23.8% and 75% of the cases, respectively. Vomiting was the most prevalent symptom (57.1%), and encephalopathy occurred in 33.3%. Laboratory results showed acidosis (81%), hyperammonemia (71.4%), and hypoglycemia (14.3%).Conclusions: The early initiation of treatment for organic acid disorders carries a more favorable prognosis. Therefore, we strongly recommend for implementing newborn screening to overcome diagnostic challenges and delays. For effective intervention, healthcare professionals should have a comprehensive understanding of the clinical manifestations of IVA and be proficient in interpreting biochemical test results.

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Cardiac manifestations in children with inborn errors of metabolism

Papadopoulou-Legbelou

Γώγου

Evangeliou

2017

Indian Pediatr

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Cardiomyopathy is the most frequent heart disorder in most metabolic defects. Heart rhythm disorders are mainly encountered in mitochondrial disorders and acidemias, whereas valvular dysfunction is a prominent finding in storage disorders. Cardiac involvement in mitochondrial disorders, congenital disorders of glycosylation and acidemias usually constitute an early symptom. On the contrary, in storage disorders, heart problems are revealed in later stages during routine multisystemic evaluation, with the exception of Pompe disease. As a variety of cardiac manifestations can be found in inborn errors of metabolism, these children should be systematically screened for heart problems during their follow-up.

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Ebstein cardiac anomaly, functional pulmonary atresia and isovaleric acidemia: A case report

Cited by 3 publications

References 11 publications

Organic acid disorders

Organic acid disorders

Isovaleric Acidemia in Jordan

Cardiac manifestations in children with inborn errors of metabolism

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