Liver transplantation in two cases of propionic acidaemia

Schlenzig, J; Poggi-Travert, F.; Laurent, J; Rabier, Daniel; Jan, D.; Wendel, U.; Sewell, A. C.; Révillon, Y.; Kamoun, P.; Saudubray, J. M.

doi:10.1007/bf00710056

Cited by 41 publications

(28 citation statements)

References 37 publications

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“…Propionylcarnitine measurement (although this was not in our current protocol) should be also helpful as this metabolite is not synthesized by intestinal flora (Burns et al 1996), although it seems to be correlated with carnitine supplementation (Schlenzig et al 1995). Another important concern remains the low to very low plasma concentrations of essential amino acids, not only for precursors of the organic acids such as valine and isoleucine, but also, although to a lesser extent, for leucine and phenylalanine which are not involved in the metabolic block.…”

Section: Discussionmentioning

confidence: 93%

Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture

Touati

Valayannopoulos

Mention

et al. 2006

J of Inher Metab Disea

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110

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In a series of 137 patients with methylmalonic acidaemia (MMA) and propionic acidaemia (PA) diagnosed since the early 1970s, we report in more detail 81 patients (51 MMA and 30 PA) diagnosed between 1988 and 2005. In this series, 14% of patients died at initial access revealing the disease before or despite treatment, 18% died later, and the remainder (68%) are still alive. All patients were treated with the same protocol of enteral feeds with a low-protein diet adjusted to individual tolerance, carnitine, antibiotics, and only occasional use of an amino acid (AA) mixture. There was intensive follow-up and monitoring using measurements of urinary urea. Thirty-nine patients with severe forms, followed for more than 3 years, are analysed in particular detail. Of the 17 PA patients, 6 had moderate disability (all neonatal-onset forms), whereas 11 were normal or slightly delayed in their mental development. Four presented with cardiomyopathy, of whom 2 died. Of the 22 MMA patients, 13 presented in the neonatal period, of whom 3 died later, 2 are in renal failure and only 5 are still alive and have a normal or slightly delayed mental development. In the 9 patients with late-onset forms, there were no deaths and all patients but one have normal mental development. Among the 39 patients, only 40% were given an AA supplement at 3 years, and 50% between 6 and 11 years. The actual intake of natural protein was 0.92, 0.78 and 0.77 g/kg per day at 3, 6 and 11 years, respectively, in patients without AA supplementation, whereas it was 0.75, 0.74 and 0.54 g/kg per day in the group who received small quantities of AA (0.4-0.6 g/kg per day). In both groups, feeding disorders were frequent: 55% at 3 years, 35% at 6 years and 12% at 11 years. Many patients were given a food supplement by tube overnight or were even exclusively tube fed: 60% at 3 years, 48% at 6 years and still 27% at 11 years. Growth velocity was near the normal values. Plasma valine and isoleucine were low to very low, as were leucine and phenylalanine but to a lesser extent. Albumin, vitamins, trace elements and markers of bone metabolism were within the normal values. IGF1, 24-hour urine calcium and body mass density were low. Body composition showed a normal to low lean mass and a normal to high fat mass.

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Section: Discussionmentioning

confidence: 93%

Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture

Touati

Valayannopoulos

Mention

et al. 2006

J of Inher Metab Disea

Self Cite

110

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“…The effect on the central nervous system remains unclear. There is one report on improved EEG after LT [202], but basal ganglia strokes have also occurred after LT [184,203]. The observation of severe metabolic acidosis 3 years after successful LT without protein restriction [204] and a less significant reduction of circulating metabolites after LT and increased protein intake [205] suggest that a certain level of protein restriction and carnitine supplementation may be indicated even after LT.…”

Section: Methodology and Objectivesmentioning

confidence: 99%

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Baumgartner

Hörster

Dionisi‐Vici

et al. 2014

Orphanet J Rare Dis

509

771

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Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:100’000 -150,000. Patients present either shortly after birth with acute deterioration, metabolic acidosis and hyperammonemia or later at any age with a more heterogeneous clinical picture, leading to early death or to severe neurological handicap in many survivors. Mental outcome tends to be worse in PA and late complications include chronic kidney disease almost exclusively in MMA and cardiomyopathy mainly in PA. Except for vitamin B12 responsive forms of MMA the outcome remains poor despite the existence of apparently effective therapy with a low protein diet and carnitine. This may be related to under recognition and delayed diagnosis due to nonspecific clinical presentation and insufficient awareness of health care professionals because of disease rarity.These guidelines aim to provide a trans-European consensus to guide practitioners, set standards of care and to help to raise awareness. To achieve these goals, the guidelines were developed using the SIGN methodology by having professionals on MMA/PA across twelve European countries and the U.S. gather all the existing evidence, score it according to the SIGN evidence level system and make a series of conclusive statements supported by an associated level of evidence. Although the degree of evidence rarely exceeds level C (evidence from non-analytical studies like case reports and series), the guideline should provide a firm and critical basis to guide practice on both acute and chronic presentations, and to address diagnosis, management, monitoring, outcomes, and psychosocial and ethical issues. Furthermore, these guidelines highlight gaps in knowledge that must be filled by future research. We consider that these guidelines will help to harmonize practice, set common standards and spread good practices, with a positive impact on the outcomes of MMA/PA patients.

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“…Indication for LT includes severe forms of PA and MMA that experience frequent metabolic decompensations despite optimal dietary management 160–162. Neurological deterioration post‐transplantation has been documented 159, 163–168.…”

Section: Disorders Of Branched‐chain Amino Acids (Bcaa)mentioning

confidence: 99%