Neonatal heel prick

The neonatal heel prick is a blood collection procedure done on newborns. It consists of making a pinprick puncture in one heel of the newborn to collect their blood. This technique is used frequently as the main way to collect blood from neonates. Other techniques include venous or arterial needle sticks, cord blood sampling, or umbilical line collection. This technique is often utilized for the Guthrie test, where it is used to soak the blood into pre-printed collection cards known as Guthrie cards. The classical Guthrie test is named after Robert Guthrie, an American bacteriologist and physician who devised it in 1962. The test has been widely used throughout North America and Europe as one of the core newborn screening tests since the late 1960s. The test was initially a bacterial inhibition assay, but is gradually being replaced in many areas by newer techniques such as tandem mass spectrometry that can detect a wider variety of congenital diseases. The blood samples can be used for a variety of metabolic tests to detect genetic conditions, including: Immunoreactive trypsinogen to detect cystic fibrosis. Maple syrup urine disease (MSUD or Branched Chain Ketonuria) a rare disorder where an error in metabolism inhibits the breakdown of amino acid leucine, isoleucine and valine. It can impair brain development. Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) Phenylketonuria, a disorder where an error in amino acid metabolism can impair brain development (PKU) Sickle-cell disease Thyroid stimulating hormone (TSH) or Thyroxin (T4) to detect congenital hypothyroidism and hence prevent cretinism. Isovaleric acidemia (IVA) Homocystinuria (pyridoxine unresponsive) (HCU) 17-hydroxy-progesterone (17-OHP) to detect adrenogenital syndrome, also known as congenital adrenal hyperplasia Galactosemia The test uses the growth of a strain of bacteria on a specially-prepared agar plate as a sign for the presence of high levels of phenylalanine, phenylpyruvate, and/or phenyllactate.

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Inborn errors of metabolism

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds.

Newborn screening

Newborn screening (NBS) is a public health program of screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the disease and prevent or ameliorate the clinical manifestations. NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and that early intervention was required for the best outcome.

Cofactor sensing proteins for metabolic assays at point-of-care

Qiuliyang Yu

Miniaturized blood analysis promises a substantial improvement for the process of healthcare. However, most current blood analysis methods were developed in the context of centralized laboratories and there is a lack of robust detection technologies suitab ...

EPFL2018

Semisynthetic sensor proteins enable metabolic assays at the point of care

Kai Johnsson, Rudolf Griss, Qiuliyang Yu, Lin Xue, Julien Hiblot

Monitoring metabolites at the point of care could improve the diagnosis and management of numerous diseases. Yet for most metabolites, such assays are not available. We introduce semisynthetic, light-emitting sensor proteins for use in paper-based metaboli ...

AMER ASSOC ADVANCEMENT SCIENCE2018

Impact of the apolipoprotein E polymorphism, age and sex on neurogenesis in mice: Pathophysiological relevance for Alzheimer's disease?

Johan Auwerx

Apolipoprotein E (ApoE) is found in three different forms in humans (ApoE2, ApoE3 and ApoE4), and ApoE polymorphism is recognized as a major risk factor for Alzheimer's disease (AD). ApoE is involved in lipid and cholesterol transport, cell repair, and amy ...

Elsevier2014