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Neonatal screening
Published in Alison Edwards, Postnatal and Neonatal Midwifery Skills, 2020
Screens for all or some of the following – phenylketonuria (PKU), congenital hypothyroidism (CHT), cystic fibrosis (CF), altered haemoglobins (e.g. sickle cell) and MCADD (medium-chain acyl-CoA dehydrogenase deficiency), phenylketonuria, maple syrup urine disease, isovaleric acideamia, glutaric aciduria type 1 and homocystinuria.
Organic acid disorders and disorders of fatty acid oxidation
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Glutaric aciduria is a rare metabolic disorder that belongs to a group of conditions known as organic acidaemias, in which the individual is unable to break down certain proteins, and the result is a build-up of chemicals, usually acids, in the body. In glutaric aciduria type 1, there is a deficiency or an absence of the enzyme glutaryl-CoA dehydrogenase, and this leads to a build-up of glutaric acid. It is the accumulation of this acid that causes the symptoms of this condition.
Maternal and child health
Published in Liam J. Donaldson, Paul D. Rutter, Donaldsons' Essential Public Health, 2017
Liam J. Donaldson, Paul D. Rutter
Most neonates are given a dose of vitamin K immediately after birth. Vitamin K is required for blood clotting and therefore reduces the risk of bleeding. This dose is particularly important for premature or unwell babies and poor feeders. Immediately after birth, a spot of blood is taken from the neonate via a heel prick. This is tested for cystic fibrosis, sickle cell disease, congenital hypothyroidism and inherited metabolic diseases (phenylketonuria and medium-chain Acyl-CoA dehydrogenase deficiency [MCADD]) and four further inherited metabolic diseases (maple syrup disease, isovaleric acidaemia, glutaric aciduria type 1 and homocystinuria).
Selecting assessment tools to characterize upper limb function of children with cerebral palsy: A mega-review of systematic reviews
Published in Developmental Neurorehabilitation, 2022
Leonardo Vinícius Thomé Teixeira da Silva, Milena Vegas, Natalia Aquaroni Ricci, Cristina S. Cardoso de Sá, Sandra Regina Alouche
Studies were considered ineligible if (a) only their abstracts were available without respective entire publication, and which, even after request from the authors of the published, did not result in their procurement; (b) the scope of the study was exclusively the assessment of the ICF body structure and function domain, such as muscle strength and/or spasticity; (c) the assessment reported in the study used instrumental laboratorial methods of assessment or diagnosis, such as electromyography, accelerometry and force platform; or (d) the study sample was composed exclusively of children diagnosed with musculoskeletal or neurological conditions not related to CP, such as obstetric brachial plexus palsy or other congenital syndrome such as Sjorjan Larsson syndrome,36 Glutaric Aciduria type 136,37 or Angelman syndrome.36
Novel plasma metabolite markers of attention-deficit/hyperactivity disorder identified using high-performance chemical isotope labelling-based liquid chromatography-mass spectrometry
Published in The World Journal of Biological Psychiatry, 2021
Liang-Jen Wang, Wen-Jiun Chou, Ching-Shu Tsai, Min-Jing Lee, Sheng-Yu Lee, Chia-Wei Hsu, Pei-Chun Hsueh, Chih-Ching Wu
5-hydroxylysine is a hydroxylated derivative of the amino acid lysine that is present in certain collagens. Patients with glutaric aciduria type 1, an inborn error of hydroxylysine, have been found to exhibit neuroaxonal damage, demyelination, and astrocytosis in the right frontal white matter and right lentiform nuclei (Kurul et al. 2004; Radha Rama Devi et al. 2016). L-cystine is the L-enantiomer of the sulfur-containing amino acid cystine. Glutamate exported by system x(c) is largely responsible for the extracellular glutamate concentration in the brain, while imported cystine is required to synthesise the major endogenous antioxidant. L-cystine may serve as a neuroprotective protein and signalling pathway (Albrecht et al. 2010). The results of this study showed that L-cystine was strongly and positively correlated with ADHD symptoms, which suggests that patients suffering from more severe ADHD symptoms may need more L-cystine to compensate for neurodevelopment.
Neurosurgical aspects of abusive head trauma management in children: a review for the training neurosurgeon
Published in British Journal of Neurosurgery, 2019
It is important to remain open minded and non-judgemental as the treating neurosurgeon. A number of other conditions can lead to the false suspicion of abuse and need to be excluded. Similar presentations can be caused by birth trauma, congenital vascular malformations, spontaneous SDH, coagulopathy and metabolic deficiencies.3 For example, though retinal haemorrhages may be observed in 65–95% of patients with AHT, they can also be seen in accidental head trauma (especially cases of subdural haematoma) and during normal vaginal birth.18,24 Coagulopathies such as haemophilia and hypoprothrombinaemia (secondary to vitamin K deficiency) have in rare cases been reported to cause intracranial haemorrhage in infants.25 Osteogenesis imperfecta can result in osteopenic fractures, short stature, bruising and rarely SDH.18,26 Spontaneous SDH can occur in infants with benign enlargement of the subdural space (BESS)27 and infants with glutaric aciduria type 1 present with developmental delay, hypotonia, dyskinesia, cortical atrophy and subdural collections and are often wrongly suspected of suffering AHT.28