Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia

Satoh, Taijyu; Narisawa, Kuniaki; Igarashi, Yasuhiro; Saitoh, Tatsuo; Hayasaka, Kazuki; Ichinohazama, Y.; Onodera, Hidetoshi; Tada, Keiya; Oohara, Kazuhiko

doi:10.1007/bf00442109

Cited by 13 publications

(4 citation statements)

References 13 publications

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“…Fall-off in growth was associated with poor metabolic control as assessed by hyperammonaemia (>75#mol/L) and returned to normal when protein intake was decreased from 1.5 to 1.0 g/kg/day. The degree of protein restriction has ranged from 0.6 to 1.4 g/kg/day (Nyhan et al, 1973;Whelan et al, 1979;Satoh et al, 1981;Ney et al, 1985). We recommend that optimal protein intake be determined individually in order to permit maximum growth and minimal metabolic complications.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of branched‐chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria

Parsons

Carter

Unrath

et al. 1989

J of Inher Metab Disea

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The biochemical and growth responses to dietary branched-chain amino acid (BCAA) intake were studied in two children; one with a disorder of branched-chain amino acid metabolism, maple syrup urine disease (MSUD) (McKusick 24860), and another with methylmalonic aciduria (MMA) (McKusick 25100). Biochemical control of MSUD focussed on plasma leucine levels while measurement of plasma ammonia levels was used in MMA. From 0 to 2.75 years both patients exhibited five episodes of toxicity. In each case toxicity was associated with dietary indiscretion or infection. The quantity of protein tolerated was always less in the MMA patient and was approximately 1 g/kg/day. From 1 to 2.75 years each patient's growth velocity approximated their predicted growth channel except during periods of toxicity. In both cases leucine intake, which gave normal growth without toxicity, was always judged to be less than the FAO/WHO recommendations. The BCAA intake of the MMA patient was remarkably stable from 0.5 to 2.75 years and at 2 years of age isoleucine and valine intake approximated the FAO/WHO recommendations. From 2 to 2.75 years BCAA intake (mg/kg/day) of the MSUD patient was less than that of the MMA patient and well below FAO/WHO recommendations. Neuromotor development in both patients is normal.

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Section: Discussionmentioning

confidence: 99%

Evaluation of branched‐chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria

Parsons

Carter

Unrath

et al. 1989

J of Inher Metab Disea

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“…While protein restriction is more aggressive in patients with other inborn errors of metabolism, in OAs dietary protein intake should target the recommended daily allowance for protein (0.8 grams protein/kg body weight), unless differences based on the individual patient response require lower or higher concentrations. Patients with spasticity or severe choreoathetosis may require additional protein nutrition for their increased energetic demand, and other patients with brittle, difficult to manage disease may require less whole protein and, based on clinician preference, addition of medical foods or formulas [12, 53, 172–179]. The primary dietary goal in OA patients should remain prevention of catabolism and allow normal growth, without causing obesity.…”

Section: Dietary Managementmentioning

confidence: 99%

Methylmalonic and propionic acidemias: clinical management update

Fraser

Venditti

2016

Current Opinion in Pediatrics

174

171

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Purpose of review Recent clinical studies and management guidelines for the treatment of the organic acidopathies methylmalonic acidemia (MMA) and propionic acidemia (PA) address the scope of interventions to maximize health and quality of life. Unfortunately, these disorders continue to cause significant morbidity and mortality due to acute and chronic systemic and end-organ injury. Recent findings Dietary management with medical foods has been a mainstay of therapy for decades, yet well controlled patients can manifest growth, development, cardiac, ophthalmological, renal and neurological complications. Patients with organic acidopathies suffer metabolic brain injury which targets specific regions of the basal ganglia in a distinctive pattern, and these injuries may occur even with optimal management during metabolic stress. Liver transplantation has improved quality of life and metabolic stability, yet transplantation in this population does not entirely prevent brain injury or the development of optic neuropathy and cardiac disease. Summary Management guidelines should identify necessary screening for patients with MMA and PA, and improve anticipatory management of progressive end-organ disease. Liver transplantation improves overall metabolic control, but injury to non-regenerative tissues may not be mitigated. Continued use of medical foods in these patients requires prospective studies to demonstrate evidence of benefit in a controlled manner.

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“…The dietary treatment of MMA restricts natural protein. Although the first experiences and therapies regarding dietary MMA treatment were published four decades ago, many questions remain [6][7][8][9]. Natural protein tolerance varies, and the severity of exclusion of methionine, threonine, valine, and isoleucine depends on the form and severity of the disease [3].…”

Section: Discussionmentioning

confidence: 99%

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria

Kowalik¹,

MacDonald

Sykut-Cegielska³

2021

Medicina

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Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity and clinical course of the disease. The experience and approach to MMA treatment in European centers is variable with different amounts of natural protein and precursor-free l-amino acids being prescribed, although the outcome appears independent of the use of precursor-free l-amino acids. Further long-term outcome data is necessary for early treated patients with MMA. This case study, a woman with MMA followed from birth to the age of 35 years, including pregnancy, illustrates the long-term course of the disease and lifetime changes in dietary treatment. A low natural protein diet (1.5 g–1.0 g/kg/day) was the foundation of treatment, but temporary supplementation with precursor-free l-amino acids, vitamin-mineral mixture, and energy supplements were necessary at different timepoints (in childhood, adolescence, adulthood and pregnancy). Childhood psychomotor development was slightly delayed but within the normal range in adulthood. There were few episodes of metabolic decompensation requiring IV glucose, but at age 27 years, she required intensive care following steroid treatment. In pregnancy, she remained stable but received intensive biochemical and medical follow-up. This successful long-term follow-up of a patient with MMA from childhood, throughout pregnancy, delivery, and postpartum confirms that careful clinical, biochemical, and dietetic monitoring is crucial to ensure a favourable outcomes in MMA. Personalized treatment is necessary according to the individual clinical course. Knowledge about long-term treatment and clinical outcome is important information to influence future MMA clinical guidelines.

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Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia

Cited by 13 publications

References 13 publications

Evaluation of branched‐chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria

Evaluation of branched‐chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria

Methylmalonic and propionic acidemias: clinical management update

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria

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