Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome

Sindgikar, Seema Pavaman; Shenoy, Krithika Damodar; Kamath, Nutan; Shenoy, Rajgopal

doi:10.7860/jcdr/2017/28793.10632

Cited by 5 publications

(6 citation statements)

References 25 publications

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“…PA and MMA cause life‐threatening metabolic decompensation episodes and can result in serious sequelae. Although early detection with expanded newborn screening protocols and improvements in conventional substrate reduction therapy have led to an overall decrease in mortality, growth retardation and failure, poor nutritional status, selective organ impairment, and accumulative neurologic injury are persistent disease complications …”

Section: Discussionmentioning

confidence: 99%

Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes

et al. 2018

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Propionic acidemia (PA) and methylmalonic acidemia (MMA) comprise the most common organic acidemias and account for profound morbidity in affected individuals. Although liver transplantation (LT) has emerged as a bulk enzyme-replacement strategy to stabilize metabolically fragile patients, it is not a metabolic cure because patients remain at risk for disease-related complications. We retrospectively studied LT and/or liver-kidney transplant in 9 patients with PA or MMA with additional focus on the optimization of metabolic control and management in the perioperative period. Metabolic crises were common before transplant. By implementing a strategy of carbohydrate minimization with gradual but early lipid and protein introduction, lactate levels significantly improved over the perioperative period (P < 0.001). Posttransplant metabolic improvement is demonstrated by improvements in serum glycine levels (for PA; P < 0.001 × 10 ), methylmalonic acid levels (for MMA; P < 0.001), and ammonia levels (for PA and MMA; P < 0.001). Dietary restriction remained after transplant. However, no further metabolic crises have occurred. Other disease-specific comorbidities such as renal dysfunction and cardiomyopathy stabilized and improved. In conclusion, transplant can provide a strategy for altering the natural history of PA and MMA providing stability to a rare but metabolically brittle population. Nutritional management is critical to optimize patient outcomes.

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Section: Discussionmentioning

confidence: 99%

Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes

et al. 2018

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“…Nonetheless, results showed that patients would be more susceptible to develop behavioral disorders such as self-damaging or self-regulating issues, anxious and avoidant behaviors, confirmed by parents [ 11 ]. Those behavioral signs are concordant with the higher prevalence of neurodevelopmental disorders in organic acidurias [ 18 ]. Concerning PA, the most frequent disorders are neurodevelopmental disorders from the Autism Spectrum ([ 5 , 21 ].…”

Section: Introductionmentioning

confidence: 69%

“…Indeed, borderline personality traits and dissociative symptoms are associated with sexual and physical abuse and emotional neglect (de Aquino [ 1 ]). In addition, one could suppose that propionic acidemia is associated with an emotional dysregulation, as suggested by previous literature in children and young adults with PA or others organic acidurias [ 11 , 13 , 18 ]. This issue of self-regulation could lead to an hyperreactivity to traumatic events.…”

Section: Discussionmentioning

confidence: 93%

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Functional neurologic disorders in an adult with propionic acidemia: a case report

Frismand-Kryloff

Hingray

2021

BMC Psychiatry

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Background Inborn errors of metabolism are often characterized by various psychiatric syndromes. Previous studies tend to classify psychiatric manifestations into clinical entities. Among inborn errors of metabolism, propionic acidemia (PA) is a rare inherited organic aciduria that leads to neurologic disabilities. Several studies in children with PA demonstrated that psychiatric disorders are associated to neurological symptoms. To our knowledge, no psychopathological description in adult with propionic acidemia is available. Case presentation We aimed to compare the case of a 53-year-old woman with PA, to the previous psychiatric descriptions in children with PA and in adults with other inborn errors of metabolism. Our patient presented a large variety of signs: functional neurologic disorders, borderline personality traits (emotional dyregulation, dissociative and alexithymic trends, obsessive-compulsive disorders), occurring in a context of neurodevelopmental disorder. Conclusion Clinical and paraclinical examinations are in favor of a mild mental retardation since childhood and disorders of behavior and personality without any definite psychiatric syndrome, as already described in other metabolic diseases (group 3). Nonetheless, further studies are needed to clarify the psychiatric alterations within adult patients with PA.

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“…Vitamin B 12 responsive MMAs have favourable outcomes with early diagnosis 15 and in our own experience. 16 …”

Section: Global Health Problem Analysismentioning

confidence: 99%

Inborn error of metabolism precipitated by COVID-19: challenges in the absence of an expanded newborn screening as state health programmes

2022

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Inborn errors of metabolism constitute a differential diagnosis in infants presenting with encephalopathy in developing countries where expanded newborn screening is not a state health programme. Acute neurological presentation with encephalopathy is documented in paediatric COVID-19. The pandemic has also altered parents' healthcare-seeking behaviour, leading to delays in emergency care. We illustrate the challenges faced in diagnosing and managing an 18-month-old child who presented with acute metabolic crisis due to methylmalonic acidaemia on the background of the COVID-19 pandemic. We discuss the current global status of expanded newborn screening services for inborn error of metabolism and the impact of the pandemic on the healthcare of children.

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Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome

Abstract: OA is part of differential diagnosis in sick children and treatment needs to be prompt and specific. Prognosis is guarded even with long term cofactor supplementation in the symptomatic.

Cited by 5 publications

References 25 publications

Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes

Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes

Functional neurologic disorders in an adult with propionic acidemia: a case report

Inborn error of metabolism precipitated by COVID-19: challenges in the absence of an expanded newborn screening as state health programmes

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