Normally, our bodies break down protein foods like meat and fish into amino acids. Glutaric aciduria ii ga2 is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. Maternal riboflavin deficiency, resulting in transient neonatal. It is in the group of disorders known as cerebral organic acidemias. The severity of ga2 varies widely among affected individuals. Clinical and genetical heterogeneity of lateonset multiple acyl. In glutaric aciduria type 1 ga1, dietary treatment with emergency management em is essential to prevent encephalopathic crisis ec.
Glutaric acidemia type 2 an overview sciencedirect topics. Individuals with these conditions have a deficiency or absence of an enzyme. In the present study, dietary practices were examined in a single uk centre without access to newborn screening. On average, about 67 newborns are diagnosed with glutaric aciduria type i in ger many every year, which is equivalent to a prevalence of one newborn with glutaric aciduria type i in 120,000 newborns 1. Glutaric acidemia type 2 is caused by a deficiency of one of three electron.
Glutaric aciduria type i nord national organization for. Maternal riboflavin deficiency, resulting in transient. Aciduria glutarica tipo 1 pdf glutaric acidemia type 1 is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and. Glutaric aciduria type i ga1 is a rare hereditary metabolic disorder caused by a deficiency of the mitochondrial enzyme glutarylcoa dehydrogenase gcdh. Glutaric aciduria type ii is a defect of the mitochondrial betaoxidation. Fao occurs during prolonged fasting andor periods of increased energy demands fever, stress when. Glutaric acidemia type ii genetic and rare diseases.
Glutaric aciduria type 2 ga2, also known as multiple acylcoa dehydrogenase deficiency madd. Macrocephaly and rapid head growth in early infancy may also herald the occurrence of a rarer but related disorder, l2hydroxyglutaric aciduria. In this disorder, a defective breakdown of proteins and fats, result in the accumulation of acidic products in the body. Glutaric aciduria type ii nord national organization for rare. Althoughglutaric aciduriatype ii is a rare form of fatty acid oxidation disorder, the disease shouldbe considered when a newborn presents with generalized. Glutaric acidemia type ii is an inherited metabolic disorder caused by a deficiency of either mitochondrial electron transport flavoprotein etf or multiple.
Glutaric acidemia type ii is an inherited disorder that interferes with the bodys ability to break down proteins and fats to produce energy. Gai is considered to be a neurological disorder and a cerebral organic aciduria4. Of note, the ga1 phenotype can vary widely between untreated family members with the same genotype, primarily as a function of the age at which the first acute encephalopathic crisis. Disease name glutaric acidemia type 2 alternate names glutaric aciduria ii, glutarylcoa dehydrogenase deficiency acronym ga2, gaii disease classification organic acid disorder variants yes variant name riboflavin responsive ga1 symptom onset infancy typically 2 37 months symptoms macrocephaly may be present at birth, acute encephaliticlike crises. Primarily a neurologic disorder gai is considered a cerebral organic aciduria caused by deficiency of glutarylcoa dehydrogenase.
Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic metabolic acidosis. Glutaric aciduria ga is an autosomalrecessive defect in degradation of 2 ketoadipic acid, a metabolite in lysine and tryptophan degradation pathways. View enhanced pdf access article on wiley online library html view download pdf for offline viewing. Dietary practices in glutaric aciduria type 1 over 16.
Multiple acylcoa dehydrogenase deficiency madd, also called glutaric acidemia type ii or glutaric aciduria type ii, is an autosomal recessive defect in the mitochondrial electron transfer chain caused by mutations in etfdh, etfa, or etfb. The variability of the organic aciduria, which possibly reflects changes in protein and fat intake, suggests that a previous name for this disorder, i. Glutaric aciduria type 1 glutaric acidemia type 1 ga1 is a rare hereditary metabolic disorder with an autosomal recessive mode of inheritance. The acmg act sheets and their accompanying algorithms are a great resources for health care providers looking for information on genetic conditions identified through newborn screening and beyond to help inform clinical decision making. Glutaric aciduria type ii gaii is one of the conditions termed organic acidemias. We present a case of a 19year old female with progressive muscle weakness was admitted in intensive care. Glutaric aciduria type i gai is an autosomal recessive organic aciduria caused by glutarylcoa dehydrogenase gcdh deficiency with an estimated overall prevalence of 1 in 100,000 newborns. Glutaric aciduria type ii is an autosomal recessive disease caused by changes mutations in the etfa subunit alpha, etfb subunit beta or etfdh genes.
Nutrition support of children and adults with glutaric aciduria type i. Neonatal and early infantile presentation occurs in type i ga, caused by glutarylcoa dehydrogenase deficiency. Glutaric aciduria type i gai, omim 231670, gard 6522, orpha 25. Glutaric acidemia type ii ga2 facts and information. The mutations result in deficient or complete absence of activity of multiple acylcoa dehydrogenase madd enzymes needed to break down fats and proteins that the body uses for energy. Glutaric acidemia type 1 is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Discussion glutaric aciduria type ii is an organic acid disorder, first described by przyrembel et al in 1976. It means the body cant process certain amino acids building blocks of protein, causing a harmful buildup of substances in the blood and urine.
Glutaric aciduria type 1 ga1 dietetic management pathway. Proposed recommendations for diagnosing and managing. Pdf glutaric aciduria type 2 presenting with acute. Reported here is a novel presentation of late onset glutaric aciduria type 2 in two thai siblings. Glutaric aciduria type 2 glutaric aciduria type 2 is a rare disorder that belongs to a group of disorders known as the organic acidaemias. A 9yearold boy presented with gradual onset of proximal muscle weakness for 6 weeks. Pdf glutaric aciduria type ii, also known as multiple acyl coenzyme a dehydrogenase deficiency, is an autosomal recessive, mitochondrial organic acid. Glutaric acidemia type iii is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. Introduction glutaric acidemia type ii is an inherited disorder that interferes with the bodys ability to break down proteins and fats to produce energy. A novel etfb mutation in a patient with glutaric aciduria type ii. Rachel engen, sangeeta hingorani, in averys diseases of the newborn tenth edition, 2018.
A novel etfb mutation in a patient with glutaric aciduria. Glutaric aciduria type ii nord national organization. Electromyography and nerve conduction velocity testing indicated a myopathic pattern. Multiple acylcoa dehydrogenase deficiency glutaric. Pdf mr imaging findings of glutaric aciduria type ii researchgate. Glutaric aciduria type 2 presenting with acute respiratory failure in an adult article pdf available in respiratory medicine case reports 22c may 2015 with 140 reads how we measure reads. Based on the presentation, image results and laboratory findings, a diagnosis of glutaric aciduria type ii was made. Glutaric acidemia type i gai is a rare, autosomal recessive metabolic disorder that leads to severe dystonia, basal ganglia degeneration, and bilaterally enlarged anterior middle cranial fossae.
Glutaric aciduria type ii gaii, also known as multiple acylcoa dehydrogenase deficiency, is an inborn error of metabolism. Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is characterised by defects in the ability of the body to use proteins and fats for energy. The phenotypic spectrum of untreated glutaric acidemia type 1 ga1 ranges from the more common form infantileonset disease to the less common form lateronset disease i. Genetic fact sheets for professionals fatty acid oxidation. Glutaric acidemia type ii genetics home reference nih. No specific phenotype has been described, as symptoms vary and some individuals remain symptomfree. Glutaric aciduria gta type ii can be seen as late onset form with myopathic phenotype. Glutaric aciduria type ii, also known as multiple acyl coenzyme a dehydrogenase deficiency, is an autosomal recessive, mitochondrial organic acid disorder that impairs electron transfer. A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes i. This results in a buildup of organic acids in the blood and. Individuals with this condition have deficiency or absence of gcdh enzyme that is involved in the lysine metabolism. Glutaric aciduria type 2 ga2 differential diagnosis. Glutaric acidemia type ii ga2 is a disorder that interferes with the bodys.
The clinic was located on an amish farm near the town of strasburg, named after strasbourg france. Incompletely processed proteins and fats can build up, leading to a dangerous chemical imbalance called acidosis. The major types of this disorder are called d 2hydroxyglutaric aciduria d 2 hga, l 2hydroxyglutaric aciduria l 2 hga, and combined d,l 2hydroxyglutaric aciduria d,l 2 hga. The initial diagnosis was postviral myositis, and then polymyositis. Multiple acylcoa dehydrogenation deficiency madd is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhoodadult disease with episodic metabolic. Type 1 glutaric aciduria is a genetic disease that produces a deficiency in the glutaryl coa dehydrogenase enzyme. Glutaric aciduria type 1 ga1 is a rare but serious inherited condition. The symptoms appear after an asymptomatic period during the first months of life. Blood acylcarnitines show increased c4c18 species although patients may be severely carnitine depleted, which may limit the degree of these abnormalities.
It can be caused by a deficiency in either the electron transfer flavoprotein etf enzyme or the etfubiquinone oxidoreductase etf. Enable javascript to view the expandcollapse boxes. Excessive levels of their intermediate breakdown products glutaric acid, glutarylcoa, 3hydroxyglutaric acid, glutaconic acid can accumulate and cause damage to the brain and also other organs, but particularly the basal ganglia, which. The female gaii patient, a second child of healthy nonconsanguineous parents, was born at 31 weeks gestation by emergency cesarean section because of fetal distress. Combined d,l 2 hga appears to be even rarer, with only about a dozen reported cases. Glutaric acidemia ga2 is a form of autosomal recessive disorder both of the affected persons parents must be carriers of the disorder. D 2 hga and l 2 hga have each been reported to affect fewer than 150 individuals worldwide. Glutaric acidemia type ii is an inherited disorder that impairs mitochondrial functioning and interferes with the bodys ability to break down proteins and fats. This deficiency entails an elevation of glutaric acid and 3oh glutaric acid. Glutarex 2 glutarex 2 amino acid modified medical food for more information, contact your abbott nutrition representative or visit. Aciduria glutarica tipo 1 pdf glutaric acidemia type 1 is an inherited disorder in which the body is unable to completely break down the amino acids lysine. Our nonprofit medical center remains a primary care pediatric practice but it is a practice informed by.
Urinary organic acid analysis usually displays various combinations of increased dicarboxylic acids, glutaric acid, ethylmalonic acid, 2 hydroxyglutarate, and glycine conjugates. Among the metabolic myopathies glutaric aciduria type ii gaii is an autosomal recessively inherited rare disorder of fatty acid and amino acid. Glutaric acidemia type iii genetic and rare diseases. This condition usually appears in infancy or early childhood as a sudden episode of metabolic acidosis, hypoglycemia, weakness, poor feeding, decreased activity, and vomiting. Ga2madd primarily affects fatty acid oxidation fao.
Glutaric aciduria ii ga2 is an autosomal recessively inherited disorder of fatty acid, amino acid, and. The clinical, biochemical, and neuroradiologic findings and clinical followup of seven patients with glutaric aciduria type ii are reported. Ga1 has an estimated overall prevalence of 1 in 100,000. Individuals with these conditions have a deficiency or absence of an enzyme that prevents the breakdown of certain chemicals proteins and fats in the body, resulting in the accumulation of several organic acids in the blood and urine. Glutaric acidemia type ii ga2 is a disorder that interferes with the bodys ability to break down proteins and fats to produce energy. Glutaric acidemia i is an autosomal recessive metabolic disorder characterized by gliosis and neuronal loss in the basal ganglia and a progressive movement disorder that usually begins during the first year of life goodman et al. Pdf mr imaging findings of glutaric aciduria type ii. Ga2 is a form of inherited disorder that interferes with a persons body and its ability to break down fats and proteins in order to produce energy. Glutaric acidemia type ii or ga ii is a rare inherited genetic disorder.
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