Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism

Abstract

Isovaleric acidemia (IVA) is an autosomal recessive disease of the leucine metabolism due to a deficiency of isovaleryl-CoA dehydrogenase (IVD). We report the case of a six-month-old girl admitted with a seven-day history of fever, cough, stridor, vomiting, and respiratory distress. Second-degree consanguinity was documented between the parents. Urine organic acid analysis by gas chromatography-mass spectrometry showed marked excretion of 3hydroxybutyric acid along with moderate excretion of 3-hydroxy-isovaleric acid. Isovaleric acidemia was diagnosed based on history, examination, and laboratory evaluation. The patient managed with fluid resuscitation, correction of her metabolic acidosis, antibiotics, and supportive care.

Recent developments and future perspectives of microfluidics and smart technologies in wearable devices

“…Cortisol, the primary hormone detected in saliva, has a strong correlation with its concentration in the blood and is commonly studied for stress and anxiety monitoring. 155 Salivary testosterone levels can also be used to study behaviour and sports endocrinology in both males and females, while salivary progesterone levels can be used to monitor menstrual cycles and pregnancy in females. In addition, salivary dihydroxyphenyl glycol and melatonin have also been studied for their potential uses in detecting catecholamine levels and pineal physiology in newborns, respectively.…”

“…Saliva is a complex fluid that contains impurities, such as charged ions, enzymes, and microorganisms, which can interfere with or damage oral wearable sensors. 155,156,167 Despite efforts to improve their reliability, current oral wearable sensors still struggle to meet user demands in this regard. 113 The oral cavity is also home to numerous physiological activities that affect the accuracy of the sensor.…”

Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations

“…Ketonuria, Elevated levels MMA and the presence of 3-hydroxypropionate, 2-methylcitrate, and tiglylglycine [11] Plasma amino acids, plasma and urine methylmalonic acid levels, serum acylcarnitine profile and free and total carnitine levels [11] IVA 607036 IVD Metabolic acidosis, Encephalopathy, Developmental Delay, Intellectual disability neutropenia [12] Metabolic acidosis (with elevated anion gap), elevated lactate, hyperammonaemia Increased excretion of 3-hydroxybutyric acid and 3-hydroxy-isovaleric acid [13] Amino acids and carnitine in plasma, urinary isovalerylglycine and plasma isovalerylcarnitine levels…”

“…The most important diagnostic investigation is organic acid analysis of urine by gas chromatography-mass spectrometry, followed by enzymatic assays and specific gene analysis [13,[21][22][23]. Diagnostic confirmation is achieved by genetic testing.…”

Glycine encephalopathy

“…In the ketotic-hyperglycinaemia condition, elevated blood levels of glycine seem to be involved in the accumulation of one or more unusual organic acids produced by the breakdown of amino acids chain. Propionic acidaemia [4] and methylmalonic acidaemia [5] are two conditions that are often linked to hyperglycinaemia; however, patients with isovaleric acidaemia [6] and betaketothiolase deficiency have also been reported to have it [7]. The majority of children with hyperglycinaemia, however, are classified as having non-ketotic hyperglycinaemia since there are often no detectable abnormalities in organic acid metabolism.…”