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Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Amino acidurias (AA): Glutaric aciduria, methylmalonic aciduria.Homocystinuria.Propionic academia.
Multiple carboxylase deficiency/biotinidase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
In initial experience, the diagnosis was made in each patient because of the occurrence of typical episodes of acidosis, ketosis, and organic aciduria [3]. Severe, life-threatening acidosis may be seen [14], along with coma, hypothermia, massive hypotonia, and absent reflexes [16]. There may be chronic compensated acidosis with serum concentrations of bicarbonate in the range of 15 mEq/L [11]. Episodic acidosis may be seen at times of acute infection [12].
Fluids and electrolyte management and nutritional support
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Craig R Nemechek, Onyebuchi Ukabiala
The characteristic biochemical profile in this condition is hyponatraemic, hypochloraemic metabolic alkalosis with or without hypokalaemia. Initially the baby is ravenously hungry and vigorous. Lethargy and oliguria are ominous indications of advanced decompensation. In this case paradoxical aciduria may be present. It is imperative to rapidly restore circulating intravascular volume with repeated intravenous boluses of 10–20 mL/kg of normal saline until the infant voids. Blood glucose should be watched carefully, especially if low to begin with. It is advisable to avoid giving any potassium until effective urine flow has been established, even though volume repletion may temporarily worsen any pre-existing hypokalaemia. Correction of the hypochloraemia invariably leads to correction of the alkalosis.
Hyperhomocysteinemia: a trigger for complement-mediated TMA?
Published in Acta Clinica Belgica, 2021
J Bernards, P Doubel, G Meeus, E Lerut, A Corveleyn, L P Van Den Heuvel, W Meersseman, D K Kuypers, KJ Claes
In preparation for future transplantation and to assess the risk of recurrence after transplantation, a full diagnostic workup for complement-mediated aHUS was performed at the time of referral to the transplantation center. Complement function testing at that time demonstrated a slight decrease in complement C3 concentration (0.7 g/L, normal value 0.79–1.52 g/L) and an increase in C3d levels with normal factor C4, C5, factor B, factor H, factor I and absence of factor-H auto-antibodies. We also found a marked rise in homocysteine (161 µmol/L, normal value 7–15 µmol/L) with slightly diminished methionine (14 µmol/L, normal value 18–61 µmol/L). Chromatographic evaluation of the urine showed no methyl-malonic aciduria. Although the patient did not show any neurological symptoms, we performed a brain MRI because of the high homocysteine level, showing no abnormalities.
Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies?
Published in Acta Clinica Belgica, 2019
Meltem Koca, Abdulsamet Erden, Berkan Armagan, Alper Sari, Fatih Yildiz, Sevim Ozdamar, Umut Kalyoncu, Omer Karadag
The clinical presentation is heterogeneous and can be grouped into three forms: the neonatal-onset form with and without congenital anomalies (type 1 and 2, respectively), and the late-onset form (type 3) [1]. Severity of the clinical picture is not related to the gene which is affected (ETFA, ETFB or ETFDH), rather it depends on the nature and the location of the mutation [2]. The neonatal-onset forms are usually fatal in perinatal period and present with acute metabolic decompensations characterized by severe metabolic acidosis, nonketotic hypoglycemia, hypotonia, multisystem involvement with or without congenital anomalies which include facial dysmorphism, cystic renal dysplasia, and cerebral malformations and even coma [3]. Age and symptoms at presentation are highly variable in the late onset form and are characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and chronic manifestations of lipid storage myopathy: myalgia, muscle weakness and exercise intolerance. Organic aciduria may be mild, atypical, or detectable only during acute metabolic decompensations [4].
Acute toxic kidney injury
Published in Renal Failure, 2019
Nadezda Petejova, Arnost Martinek, Josef Zadrazil, Vladimir Teplan
The nephrotoxicity of the potent herbicide, paraquat (1,1′-dimethyl-4,4′ bipyridinium dichloride), following ingestion has been known for more than 30 years when its effect on renal function was first described. Proximal tubular cell dysfunction with increased fractional excretion of sodium, phosphorus and uric acid as well as marked amino-aciduria and glycosuria has been documented in fatal case reports [75]. The histopathological findings from animal studies with paraquat poisoning are dose-dependent, with striking proximal and distal tubular cell lesions showing coagulation necrosis with tubular cell loss [76]. The main organs injured by paraquat are kidney and lung and pathophysiological mechanism of paraquat toxicity has been established on its redox cycling with production of reactive oxygen species and oxidative stress injury [77].