Remembering the Legacy of Judi Tuerck.

Judith "Judi" Tuerck, RN, MS, one of the true pioneers in the development of newborn screening (NBS), passed away on Saturday, 18 June 2022 (Figure 1) [...

Rationale and design of the Baylor Infant Twin Study-A study assessing obesity-related risk factors from infancy.

Background: Early childhood (0-3 years) is a critical period for obesity prevention, when tendencies in eating behaviors and physical activity are established. Yet, little is understood about how the environment shapes children's genetic predisposition for these behaviors during this time. The Baylor Infant Twin Study (BITS) is a two phase study, initiated to study obesity risk factors from infancy.

Quantification of nutritive sucking among preterm and full-term infants.

Purpose: We developed summaries of oral bottle-feeding skills among preterm (<37 gestational weeks) and full-term (≥37 gestational weeks) infants using a mechanical device (Orometer) to measure intraoral pressure changes, with accompanying automated software and analytics. We then compared the rates of change in feeding skills over several weeks (feeding trends) between preterm and full-term infants. We also compared group means at 40 weeks post menstrual age (PMA).

Historical Perspective on Clinical Trials of Carnitine in Children and Adults.

The metabolic roles of carnitine have been greatly clarified over the past 50 years, and it is now well established that carnitine is a key player in mitochondrial generation of energy and metabolism of acetyl coenzyme A. A therapeutic role for carnitine in treatment of nutritional deficiencies in infants and children was first demonstrated in 1958, and since that time it has been used to treat a number of inborn errors of metabolism. Carnitine was approved by the US Food and Drug Administration in 1985 for treatment of 'primary carnitine deficiency', and later in 1992 for treatment of 'secondary carnitine deficiency', a definition that included the majority of relevant metabolic disorders associated with low or abnormal plasma carnitine levels.

Round Table Discussion.

The 1st International Carnitine Working Group concluded with a round table discussion addressing several areas of relevance. These included the design of future studies that could increase the amount of evidence-based data about the role of carnitine in the treatment of fatty acid oxidation defects, for which substantial controversy still exists. There was general consensus that future trials on the effect of carnitine in disorders of fatty acid oxidation should be randomized, double-blinded, multicentered and minimally include the following diagnoses: medium-chain acyl coenzyme A (CoA) dehydrogenase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and mitochondrial trifunctional protein deficiency.

TMEM165 deficiency causes a congenital disorder of glycosylation.

Protein glycosylation is a complex process that depends not only on the activities of several enzymes and transporters but also on a subtle balance between vesicular Golgi trafficking, compartmental pH, and ion homeostasis. Through a combination of autozygosity mapping and expression analysis in two siblings with an abnormal serum-transferrin isoelectric focusing test (type 2) and a peculiar skeletal phenotype with epiphyseal, metaphyseal, and diaphyseal dysplasia, we identified TMEM165 (also named TPARL) as a gene involved in congenital disorders of glycosylation (CDG). The affected individuals are homozygous for a deep intronic splice mutation in TMEM165.

Quantification of intraoral pressures during nutritive sucking: methods with normal infants.

We report quantitative measurements of ten parameters of nutritive sucking behavior in 91 normal full-term infants obtained using a novel device (an Orometer) and a data collection/analytical system (Suck Editor). The sucking parameters assessed include the number of sucks, mean pressure amplitude of sucks, mean frequency of sucks per second, mean suck interval in seconds, sucking amplitude variability, suck interval variability, number of suck bursts, mean number of sucks per suck burst, mean suck burst duration, and mean interburst gap duration. For analyses, test sessions were divided into 4 × 2-min segments.

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.

Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase-1 and -2 (IDH1 and IDH2) were recently discovered in human neoplastic disorders. These mutations disable the enzymes' normal ability to convert isocitrate to 2-ketoglutarate (2-KG) and confer on the enzymes a new function: the ability to convert 2-KG to d-2-hydroxyglutarate (D-2-HG). We have detected heterozygous germline mutations in IDH2 that alter enzyme residue Arg(140) in 15 unrelated patients with d-2-hydroxyglutaric aciduria (D-2-HGA), a rare neurometabolic disorder characterized by supraphysiological levels of D-2-HG.

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes.

We studied three patients, each harboring a novel mutation at a highly conserved position in a different mitochondrial tRNA gene. The mutation in patient 1 (T5543C) was associated with isolated mitochondrial myopathy, and occurred in the anticodon loop of tRNA(Trp). In patient 2, with mitochondrial myopathy and marked retinopathy, the mutation (G14710A) resulted in an anticodon swap (Glu to Lys) in tRNA(Glu).

Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi Group.

The purpose of this symposium was to bring together the disciplines of clinical neurology and metabolic investigation and to present the most up-to-date information about specific metabolic disorders associated with infantile epilepsy. Understanding the etiology of seizures is the key to rational intervention. It is only with this insight that progress in the treatment of these patients can be made.

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

Objective: To increase awareness of congenital disorders of glycosylation (CDG), we report the features of patients with a variety of clinical presentations ranging from mild hypotonia and strabismus to severe neurologic impairment.

Study Design: Nine North American patients with CDG type I and different ethnic origins were studied.

Results: All patients had transferrin isoelectric focusing studies with a type 1 sialotransferrin pattern.