Nutrition Education

Bernstein, Laurie; Helm, Joanna R.

doi:10.1007/978-3-319-14621-8_3

Cited by 4 publications

(7 citation statements)

References 11 publications

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“…The natural protein content was estimated from leucine tolerance (1 g protein is equivalent to 60 mg leucine). 8 , 12 Omega 3 fatty acids commonly low in protein restricted diets used in IMD, were supplemented, using FAO requirements as a guide. 13 , 14 Children aged from 6 to 12 months (Patients 1–3) were prescribed 40 mg/day docosahexaenoic acid (DHA) and from the age of 1 year (except Patient 5) 95 mg/day DHA and 150 mg/day of eicosapentaenoic acid (EPA).…”

Section: Matherials and Methodsmentioning

confidence: 99%

“…Patients require additional Val and Iso supplements to promote anabolism, accelerating plasma Leu reduction and preventing Val and Iso deficiency. 5 , 7 , 8 , 9 , 10 In Iran, there is no access to Val and Iso supplements, so, we report in five cases with MSUD, the use of an alternative source of Val and Iso to rescue them from brain encephalopathy at the time of presentation and as part of an emergency protocol during illness.…”

Section: Introductionmentioning

confidence: 99%

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Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series

Ziadlou

MacDonald

2022

JIMD Reports

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In maple syrup urine disease (MSUD), leucine (Leu) accumulation, and its metabolites cause brain toxicity, and at diagnosis rapid plasma Leu reduction is essential. Valine (Val) and isoleucine (Iso) supplements are necessary to promote anabolism and enable prompt reduction of plasma Leu. Val/Iso supplements are unavailable in Iran, so an alternative source was necessary. An emergency protocol was developed using an unconventional source of Val and Iso to prompt reduction of high plasma Leu levels during an acute metabolic crisis to prevent brain encephalopathy and neurological sequelae. Five children with classical MSUD were referred aged 1–25 months, with a prolonged high plasma Leu of more than 1500 μmol/L and acute symptoms (irritability, poor feeding, and hypotonia). Initially, breast milk/regular infant formula was stopped. Val and Iso were given in calculated amounts from a Leu‐free formula containing Iso/Val (Xleu Maxamaid, Nutricia Ltd.) to promote anabolism. It was prescribed for a controlled and limited time with a branched chain amino acid (BCAA) free formula. Frequent amino acid monitoring was conducted. Natural protein was re‐added after normalizing plasma Leu. Plasma Leu declined by a median (range) of 1677 (1501–1852) μmol/L within 3–4 days of intervention. The median follow‐up time was 24 months (range: 14–32) and patients showed improvement in motor and cognitive skills after normalizing plasma Leu (75–200 μmol/L). Most had improvement in their head circumference (n = 4). Due to the unavailability of individual Val/Iso supplements, a Leu‐free formula rapidly lowered plasma Leu concentrations during acute crisis, to prevent cerebral edema and brain damage in MSUD.

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Section: Matherials and Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series

Ziadlou

MacDonald

2022

JIMD Reports

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“…Since u-HGA excretion is affected in patients with renal failure, serum urea and creatinine levels were also evaluated every 6 months. Patients’ nutritional biochemical parameters (ferritin, vitamin B12, homocysteine, folic acid, plasma amino acids, and urine methylmalonic acid), patients’ bone parameters (calcium, phosphorus, alkaline phosphatase, and 25-OH vitamin D), and patients’ u-HGA excretion as an additional parameter for disease monitoring were also evaluated once in a year [9, 24, 25]. The treatment was considered effective based on a >90% decrease in u-HGA level [9, 11].…”

Section: Methodsmentioning

confidence: 99%

Efficacy of Phenylalanine- and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature

et al. 2021

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Introduction: Nitisinone used in alkaptonuria (AKU) can result in keratopathy due to strongly increased tyrosine levels. Methods: This study aimed to investigate nutritional status and changes in plasma tyrosine and phenylalanine and urinary homogentisic acid (u-HGA) levels in 8 adult AKU patients (mean age, 56.3 ± 4.7 years) who were on tyrosine/phenylalanine-restricted diet together with 2 mg/day nitisinone. Results: The treatment period was 23.4 ± 6.9 months. Daily dietary protein intake was restricted to 0.8–1.0 g/kg/day. Daily tyrosine intake was restricted to 260–450 mg/day for females and 330–550 mg/day for males. Tyrosine/phenylalanine-free amino acid supplements accounted for an average of 56.1% of daily protein intake. The following assessments were performed: anthropometric and plasma tyrosine level measurements every 2 months; ophthalmological examination every 6 months, and nutritional laboratory analyses and measurements of plasma amino acids and u-HGA once in a year. It was targeted to keep the plasma tyrosine level <500 μmol/L. The plasma tyrosine level was <100 μmol/L before the treatment in all patients and around a mean of 582.5 ± 194.8 μmol/L during the treatment. The diet was rearranged if a plasma tyrosine level of >700 μmol/L was detected. The u-HGA level before and after the 1st year of treatment was 1,429.3 ± 1,073.4 mmol/mol creatinine and 33.6 ± 9.5 mmol/mol creatinine, respectively. None of the patients developed keratopathy or experienced weight loss and protein or micronutrient deficiency. Conclusion: AKU patients should receive tyrosine/phenylalanine-restricted diet for reducing plasma tyrosine level to the safe range. Tyrosine/phenylalanine-free amino acid supplements can be safely used to enhance dietary compliance. Keratopathy and nutrient deficiency should be frequently monitored.

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“…Males and females are affected equally. The disease was discovered in 1934 by Ivar Asbjørn Følling, with the importance of diet determined in 1953 [89][90][91]. ________________________________________________ Egypt.…”

Section: Phenylketonuriamentioning

confidence: 99%

Genetic Mutations and Major Human Disorders: A Review

2021

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Mutations are genetic sequence changes, and they are the principal cause of organism diversity. These changes occur at many different levels and can have far-reaching different consequences. These alterations occur due to genetic or epigenetic factors. These changes possibly cause phenotypic change in human which develop a disorder or evolution. Notably, our genetics can repair undesirable mutations during replication in most of the time. The types of mutations will be reviewed and discussed in this report.

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Nutrition Education

Cited by 4 publications

References 11 publications

Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series

Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series

Efficacy of Phenylalanine- and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature

Genetic Mutations and Major Human Disorders: A Review

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