Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance (original) (raw)

Dietary practices in propionic acidemia: A European survey

Molecular genetics and metabolism reports, 2017

The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance. To describe European dietary practices in the management of patients with PA prior to the publication of the European PA guidelines. This was a cross-sectional survey consisting of 27 questions about the dietary practices in PA patients circulated to European IMD dietitians and health professionals in 2014. Information on protein restricted diets of 186 PA patients from 47 centres, representing 14 European countries was collected. Total protein intake [PA precursor-free L-amino acid supplements (PFAA) and natural protein] met WHO/FAO/UNU (2007) safe protein requirements for age in 36 centres (77%). PFAA were used to supplement natural protein intake in 81% (n = 38) of centres, providing a median of 44% (14-83%) of total protein requirement. Seventy-four per cent of patients were prescribed natural protein intakes below WHO...

Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach

Molecular Genetics and Metabolism, 2019

Similar to other inherited metabolic disorders (IMD), PROP manifests as a spectrum of phenotypes. Neonatal onset PROP is characterized by poor feeding, vomiting, and fatigue in the first days of life in a previously healthy infant, and if untreated, may be followed by lethargy, seizures, coma, and death. Neonatal onset PROP is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia and cytopenia. Late onset PROP, in older children and adults with milder phenotypes, is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction which may result in dystonia and choreoathetosis, and cardiomyopathy (Chapman, Gropman, et al., 2012). Metabolically unstable individuals can have an acute decompensation that resembles the neonatal

Clinical Course and Nutritional Management of Propionic and Methylmalonic Acidemias

Journal of Nutrition and Metabolism

Propionic and methylmalonic acidemias result in multiple health problems including increased risk for neurological and intellectual disabilities. Knowledge regarding factors that correlate to poor prognosis and long-term outcomes is still limited. In this study, we aim to provide insight concerning clinical course and long-term complications by identifying possible correlating factors to complications. Results. This is a retrospective review of 20 Egyptian patients diagnosed with PA (n = 10) and MMA (n = 10) in the years 2014–2018. PA patients had lower DQ/IQ and were more liable to hypotonia and developmental delay. The DQ/IQ had a strong negative correlation with length of hospital stay, frequency of PICU admissions, time delay until diagnosis, and the mode ammonia level. However, DQ/IQ did not correlate with age of onset of symptoms or the peak ammonia level at presentation. Both the growth percentiles and albumin levels had a positive correlation with natural protein intake and ...

Atypical presentations of propionic acidemia

Health, 2012

One of the most common recessively inherited organic acidemias is the Propionic Acidosis (PA) which results from Propionyle-CoA Carboxylase (PCC) enzyme deficiency that is necessary for the catabolism of the branched chain Amino Acids and other metabolites. Classically this disease presented with high anion gap metabolic acidosis with its clinical consequences. We report 4 patients who presented to our facility with sepsis like picture and no metabolic acidosis. All of them were found to have high ammonia level. Diagnosis was confirmed by tandem MS/MS and urine Gas Chromatography/ Mass Spectrometry (GC/MS). All of them were treated supportively and by supplementation of adequate calories and PA formula. The different presentations may be very well attributed to the PCC molecular defects heterogeneity. Mutations in both genes PCCA and PCCB can cause PA with more frequent heterogeneity of PCCA gene. In spite of the fact that PCCB gene is responsible for the most of the oriental cases, our first patient condition was attributed to PCCA gene with a rare mutation which was not described in the literatures.

Propionic acidaemia: demographic characteristics and complicationsa

Journal of Pediatric Endocrinology and Metabolism, 2013

Background: Propionic acidaemia is a global, metabolic disease, highly prevalent in Kingdom of Saudi Arabia. It may produce an array of complications which significantly deteriorate the patient ' s quality of life. Objectives: To find out the demographic characteristics and complications of patients with propionic acidemia. Methods: The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively. Results: Of 24 patients, 16 (67 %) were male. Consanguineous parents were 16 (67 %). Ten (42 %) patients had diseased siblings. Mean age at diagnosis was 0.13 ± 0.27 year. Twenty-two (92 %) patients had early onset and 2 (8 %) had late onset disease. Eighteen (75 %) patients had developmental delay, 11 (46 %) had hypotonia, 3 (12 %) had hypertonia, 13 (54 %) had hyperreflexia and 12 (50 %) had seizures. Two (8 %) children each, had intracranial haemorrhage, spastic quadriplegia, hemiplegia and 1 (4 %) had paraplegia. Cerebral atrophy and nasogastric/gastrotomy, tube feeding, each was found in 6 (25 %) patients. Under nutrition was revealed in 20 (83 %), short stature in 18 (75 %), rickets in 1 (4 %) and pancreatitis in 2 (8 %) patients. During metabolic crisis, cerebral oedema and pancytopenia each were found in 4 (17 %), hypoglycaemia in 6 (25 %), hyperglycaemia in 2 (8 %), hyperammonaemia in all 24 (100 %) and metabolic acidosis in 20 (83 %) cases. Conclusion: Propionic acidaemia is a rare hereditary disorder that has wide spectrum of neurological and other complications, which perhaps with early diagnosis and intervention may be preventable, more effectively.

Chronic management and health supervision of individuals with propionic acidemia

Molecular Genetics and Metabolism, 2012

Propionic acidemia is a relatively rare inborn error of metabolism. Individuals with propionic acidemia often have life-threatening episodes of hyperammonemia and metabolic acidosis, as well as intellectual disability. There are many reports of additional problems, including poor growth, stroke-like episodes of the basal ganglia, seizures, cardiomyopathy, long QTc syndrome, immune defects, pancreatitis and optic neuropathy; however, there is little information about the incidence of these problems in this rare disease. Additionally, there are no clear guidelines for medical or surgical management of individuals with propionic acidemia. Through a comprehensive and systematic review of the current medical literature and survey of expert opinion, we have developed practice guidelines for the chronic management of individuals with propionic acidemia, including dietary therapy, use of medications, laboratory monitoring, chronic health supervision, use of gastrostomy tubes and liver transplantation.

Emerging trends in management of propionic acidemia

Arquivos Brasileiros de Endocrinologia & Metabologia, 2014

Objetivo : To evaluate the therapeutic agents used during metabolic crises and in long-term management of patients with propionic acidemia (PA).Materials and methods : The records of PA patients were retrospectively evaluated.Results : The study group consisted of 30 patients with 141 admissions. During metabolic crises, hyperammonemia was found in 130 (92%) admissions and almost all patients were managed with normal saline, ≥ 10% dextrose, and restriction of protein intake. In 56 (40%) admissions, management was done in intensive care unit, 31 (22%) with mechanical ventilation, 10 (7%) with haemodialysis, 16 (11%) with vasopressor agents, and 12 (9%) with insulin. In the rescue procedure, L-carnitine was used in 135 (96%) patients, sodium bicarbonate in 116 (82%), sodium benzoate in 76 (54%), and metronidazole in 10 (7%), biotin in about one-quarter, L-arginine in one third, and antibiotics in three-quarter of the admissions. Blood/packed RBCs were used in 28 (20%) patients, platel...

Propionic acidemia in the Arab World

The autosomal recessive disease propionic acidemia (PA) is an inborn error of metabolism with highly variable clinical manifestations, caused by a deficiency of propionyl-CoA carboxylase (PCC) enzyme, due to mutations in either PCCA or PCCB genes,which encode the alpha and beta subunits of the PCC enzyme, respectively. The classical clinical presentation consists of poor feeding, vomiting, metabolic acidosis, hyperammonemia, lethargy, neurological problems, and developmental delay. PA seems to be a prevalent disease in the Arab World. Arab patients with PA seem to have the same classical clinical picture for PA with distinctive associated complications and other diseases. Most of the mutations found in Arab patients seem to be specific to the Arab population, and not observed in other ethnic groups. In this review, I will discuss in details the clinical andmolecular profile of Arab patients with PA.