Iron status and iron supplementation in children with classical phenylketonuria.

Cruz, Buenagracia Dela; Seidler, H.; Widhalm, Kurt

doi:10.1080/07315724.1993.10718348

Cited by 10 publications

(2 citation statements)

References 33 publications

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“…Functional markers of micronutrient status (ferritin, hemoglobin, MCV for iron; methylmalonic acid and total homocysteine in serum for vitamin B12) are useful to detect iron and vitamin B12 deficiency as their plasma concentrations are not fully related to their nutritional status (e.g. functional vitamin B12 deficiency) [ 128 , 129 ].…”

Section: Treatment Goals and Follow-upmentioning

confidence: 99%

The complete European guidelines on phenylketonuria: diagnosis and treatment

Wegberg

MacDonald

Ahring

et al. 2017

Orphanet J Rare Dis

564

885

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Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method. Literature search, critical appraisal and evidence grading were conducted according to the SIGN (Scottish Intercollegiate Guidelines Network) method. The Delphi-method was used when there was no or little evidence available. External consultants reviewed the guidelines. Using these methods 70 statements were formulated based on the highest quality evidence available. The level of evidence of most recommendations is C or D. Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant. In addition, knowledge gaps are identified which require further research in order to direct better care for the future.

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Section: Treatment Goals and Follow-upmentioning

confidence: 99%

The complete European guidelines on phenylketonuria: diagnosis and treatment

Wegberg

MacDonald

Ahring

et al. 2017

Orphanet J Rare Dis

564

885

View full text Add to dashboard Cite

show abstract

“…Markers of micronutrient status in PKU patients, such as ferritin, hemoglobin, mean corpuscular volume (MCV) for iron, methylmalonic acid, and total serum homocysteine for vitamin B12, are useful to detect iron and vitamin B12 deficiency as their plasma concentrations are not fully related to their nutritional status [63,64] (Table 1).…”

Section: Imds Requiring Special Dietsmentioning

confidence: 99%

Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review

Tummolo,

Carella,

De Giovanni

et al. 2023

IJMS

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Many inherited metabolic disorders (IMDs), including disorders of amino acid, fatty acid, and carbohydrate metabolism, are treated with a dietary reduction or exclusion of certain macronutrients, putting one at risk of a reduced intake of micronutrients. In this review, we aim to provide available evidence on the most common micronutrient deficits related to specific dietary approaches and on the management of their deficiency, in the meanwhile discussing the main critical points of each nutritional supplementation. The emerging concepts are that a great heterogeneity in clinical practice exists, as well as no univocal evidence on the most common micronutrient abnormalities. In phenylketonuria, for example, micronutrients are recommended to be supplemented through protein substitutes; however, not all formulas are equally supplemented and some of them are not added with micronutrients. Data on pyridoxine and riboflavin status in these patients are particularly scarce. In long-chain fatty acid oxidation disorders, no specific recommendations on micronutrient supplementation are available. Regarding carbohydrate metabolism disorders, the difficult-to-ascertain sugar content in supplementation formulas is still a matter of concern. A ketogenic diet may predispose one to both oligoelement deficits and their overload, and therefore deserves specific formulations. In conclusion, our overview points out the lack of unanimous approaches to micronutrient deficiencies, the need for specific formulations for IMDs, and the necessity of high-quality studies, particularly for some under-investigated deficits.

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Recommendations for protein and amino acid intake in phenylketonuric patients

Cockburn

Clark

1996

Eur J Pediatr

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The methods for the determination of protein requirements are reviewed and the difficulties in achieving the recommendations of the dietary management of phenylketonuria proposed by a Medical Research Council Working Party on Phenylketonuria using currently available low phenylalanine (Phe) protein substitutes and low protein foods are examined. These recommendations are that all infants whose blood Phe concentrations exceed 600 mumol/l in the presence of a normal or low plasma tyrosine and an otherwise normal plasma amino acid profile while receiving a normal protein intake (2-3 g/kg/day), should start a low Phe diet immediately. Infants whose blood Phe concentrations remain persistently between 400 and 600 mumol/l for more than a few days should also start treatment. The diet should contain a protein substitute which is Phe free (or at least very low in Phe) and otherwise nutritionally complete with a composition sufficient to provide 100-120 mg/kg per day of tyrosine and a total amino acid intake of at least 3 g/kg per day in children under 2 years of age. In children over 2 years the intake of amino acids should be maintained at a level of 2 g/kg per day. The protein substitute should be spread as evenly as possible through the 24 h. Blood Phe concentrations should be maintained between 120 and 360 mumol/l. In children aged over 10 years it is suggested that the protein substitute should supply the protein reference nutrient intake + 50%. An upper blood Phe limit of 480 mumol/l rather than 360 mumol/l may be acceptable in school age children. Adults and adolescents should continue treatment with the aim to maintain blood Phe concentrations no higher than 700 mumol/l. During the period before conception and during pregnancy women should aim to have plasma Phe concentrations between 60-250 mumol/l.

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Iron status and iron supplementation in children with classical phenylketonuria.

Cited by 10 publications

References 33 publications

The complete European guidelines on phenylketonuria: diagnosis and treatment

The complete European guidelines on phenylketonuria: diagnosis and treatment

Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review

Recommendations for protein and amino acid intake in phenylketonuric patients

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