High protein diet mimics hypertyrosinemia in newborn infants

Techakittiroj, Chulaluck; Cunningham, Amy; Hooper, Pleasant F.; Andersson, Hans; Thoene, Jess G.

doi:10.1016/j.jpeds.2004.10.013

Cited by 10 publications

(6 citation statements)

References 7 publications

(3 reference statements)

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“…Furthermore, the maturation of 4HPPD enzyme is dependent on the gestational age: a oneweek difference, although both are at term, can result in the enzyme's different level of function. (38,39) Our nding might have been caused by these factors, in addition to laboratory techniques.…”

Section: Resultsmentioning

confidence: 98%

Profiles of Amino Acid in Indonesian Neonates

Timan

Sjarif

Pasaribu

et al. 2020

Preprint

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Background: Amino acid profiles in newborns is a sign of its nutritional status and it reflects the protein intake of the mother before and during pregnancy. The amino acid level is also a predictor of improved growth velocity and the only tool for diagnosis of amino acid disorder in suspected individuals. In Indonesia, based on National Basic Health Research year 2018, 48.8% of pregnant mother has anemia and 13% babies were underweight. Determining amino acid profiles is important to differentiate pathologic from normal condition in newborn population. There are only a few reports with adequate sample size on amino acid profiles in newborns from South East Asian Countries and none from the Indonesian population. Methods: This is the first descriptive study in Indonesia newborns population determining the profiles of amino acid concentration from dried blood spot (DBS) sample by liquid chromatography-tandem-mass spectrometry (LC-MS/MS) system. This study used DBS sample obtained from the newborns’ heel pricks, which is easier to store and handle in Indonesia’s landscape. This will allow samples from remote area to be safely transported to referral laboratory. Results: A total of 993 healthy newborns from 25 provinces and districts in Indonesia were included in this study. All samples were stored at -20oC and analyzed within 1 month. The amino acid concentration profile was summarized as 95% reference interval determined using nonparametric method. The result for most amino acid was only slightly different from previously reported reference from various population which was presumably caused by food preference. This study’s result is expected to be implemented in Indonesian population. Conclusions: Determining the amino acid profile in neonates using DBS is dependable. The result from this study is expected to be applied in our center and other referral hospital for inborn error of metabolism screening.

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Section: Resultsmentioning

confidence: 98%

Profiles of Amino Acid in Indonesian Neonates

Timan

Sjarif

Pasaribu

et al. 2020

Preprint

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“…3 Although long term neurological complications of elevated plasma tyrosine have been described in literature, transient elevations may not have the same effect other than falsely affecting results of a newborn screen. 4,5 Higher protein content present in undiluted goat's milk contributes to increased protein breakdown into acidic phosphates and sulphates. Similarly, the concentrations of chloride, potassium and phosphorus are substantially higher than in human milk.…”

Section: Discussionmentioning

confidence: 99%

Abnormal Newborn Screen in an Ex-premature Infant fed Goat Milk

Simon

Belnavis

Reynolds

2021

Int J Contemp Pediatr

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Newborn screening is an important tool in the early diagnosis or detection of rare genetic and metabolic conditions. There are external factors that may influence results. One such is infant nutrition. This article discusses the case of a three month old infant with an abnormal newborn screen in the setting of being fed whole goat milk as well as the importance of reviewing infant nutrition with parents.

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“…High tyrosine levels have been associated in the long term to intellectual deficits with variable degrees of developmental retardation, eye symptoms and skin lesions. Severe neurological manifestations, including microcephaly, seizures, tremors and behavioural difficulties, have been also described (5)(6)(7)(8) .…”

Section: Discussionmentioning

confidence: 99%

“…The consumption of undiluted goat's milk diets by infants has been associated with metabolic acidosis and severe electrolyte imbalances. Moreover, reports have also described associated morbidities such as acute stroke, megaloblastic anaemia, infections, haemolytic uremic syndrome and allergic reactions including lifethreatening anaphylactic shock (5)(6)(7)(8) . Newborn screening (NBS) results close to those observed in patients affected by tyrosinaemia (5,7) , a disorder of the catabolic pathway of the amino acid tyrosine, or maple syrup urine disease (8) , a disorder affecting the metabolism of branched-chain amino acids, have also been reported in infants fed goat's milk.…”

mentioning

confidence: 99%