Propionicacidemia, a New Inborn Error of Metabolism

Hommes, F. A.; Kuipers, Jrg; Elema, Job D.; Jansen, J. F. G. A.; Jonxis, J. H. P.

doi:10.1203/00006450-196811000-00010

Cited by 144 publications

(43 citation statements)

References 3 publications

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“…Propionic acidemia is a genetic disorder of amino acid metabolism caused by a deficiency of propionyl-CoA carbox ylase (1)(2)(3). The first clinical presentation may be manifest at any age from the neonatal period on, The spectrum of possible clinical symptoms is wide.…”

Section: ' W " éê 4 S :•• • • • • T « ••'I > • 1 S'mentioning

confidence: 99%

Magnetic Resonance Imaging and Spectroscopy of the Brain in Propionic Acidemia: Clinical and Biochemical Considerations

et al. 1996

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Three patients with propionic acidemia were studied. The first patient was diagnosed at the age of 9 mo, 3 mo after he developed hypotonia and choreoathetoid movements after an upper respiratory tract infection. The second patient was diag nosed at the age of 1.5 mo when she became comatose after nasogastric tube feeding because of failure to thrive. The third patient was diagnosed at the age of 5 d when she presented with feeding difficulties, hypotonia, and respiratory insufficiency. C ' s . * . .Propionic acidemia is a genetic disorder of amino acid metabolism caused by a deficiency of propionyl-CoA carbox ylase (1-3). The first clinical presentation may be manifest at any age from the neonatal period on, The spectrum of possible clinical symptoms is wide. Many patients exhibit poor feeding, vomiting, and lethargy leading to coma if onset of treatment is delayed. Metabolic derangement may be precipitated by infec tion or excessive protein intake (4). Ketoacidosis and hyper ammonemia are prominent laboratory findings, in particular during episodes of metabolic decompensation. The reported neurologic symptomatology is diverse. Frequently observed neurologic signs are axial hypotonia, extrapyramidal manifes tations, and seizures (see Table 1). Surtees et a l (5) recently reported the neurologic outcome of 20 patients with propionic acidemia. Extrapyramidal movements were a prominent find ing in both the early-on set group and the late-onset group (Table 1). In the late-onset group, bilateral basal ganglia hypodensities were observed on cranial computer tomography when performed shortly after the onset of the movement abnormalities. These lucencies resolved completely in most patients over a 1-3-mo period after the onset of dietary treatment (5). The pathophysiol ogy of these basal ganglia abnormalities is unknown. We report proton (*H) MRS studies of the basal ganglia in three patients with propionic acidemia (one with an early onset, two with the late-onset form). The aim of the study was to investigate whether MRS may contribute to the insight of the underlying mechanisms accounting for the basal ganglia damage in propionic acidemia and whether JH MRS may contribute in the monitoring of treatment. METHODSThree children with propionic acidemia were studied. The diagnosis was made on the basis of clinical presentation,

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Section: ' W " éê 4 S :•• • • • • T « ••'I > • 1 S'mentioning

confidence: 99%

Magnetic Resonance Imaging and Spectroscopy of the Brain in Propionic Acidemia: Clinical and Biochemical Considerations

et al. 1996

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“…Increased.accumulation of OLCFA has already been found in newborns who had died with one of these disorders shortly after birth (2)(3)(4)(5). Here we show that in affected fetuses increased OLCFA production from the precursor amino acids of propionyl-CoA is a process that starts early in fetal life.…”

mentioning

confidence: 99%

Accumulation of Odd-Numbered Long-Chain Fatty Acids in Fetuses and Neonates with Inherited Disorders of Propionate Metabolism

Wendel¹,

Baumgartner

et al. 1991

Pediatr Res

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“…Methylmalonic acidemia can also produce the biochemical phenotype and clinical manifestations of ketotic hyperglycinemia [13]. Clinical manifestations of overwhelming neonatal illness have been described in isovaleric acidemia [18] and propionic acidemia [10]. The clinical presentations of these conditions resemble one another closely.…”

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confidence: 84%

Isovaleric Acidemia Presenting with Altered Metabolism of Glycine

et al. 1971

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Pediat. Res. 5: 478-486 (1971) Extract A 7-year-old girl with periodic acidosis, lethargy, and coma beginning during the 1st year of life was studied. Episodes of ketoacidosis usually occurred with minor respiratory or gastrointestinal infections. There was history neither of peculiar body odor nor characteristic smell like that of sweaty feet. Hyperglycinemia, 4.2 mg/100 ml, and hyperglycinuria, 361 mg/liter, were found at times of illness with acidosis. A clinical diagnosis of ketotic hyperglycinemia was made in 1966. Glycine metabolism was therefore investigated in vivo using 14 C-labeled glycine. The oxidation of glycine to respiratory CO2 and formation of serine from glycine were found to be normal. The labeling of urinary hippurate, however, the largest component of the labeled products of glycine in the urine in normal individuals, was virtually zero. An abnormal, labeled product of glycine was found in the urine and identified as isovalerylglycine. As much as 6% of the 14 C-glycine administered was incorporated into urinary isovalerylglycine within 24 hr. Isovalerylglycine in urine was 2880 mg/24 hr, while normal individuals excrete less than 2 mg/24 hr. Isovaleric acid was found in both urine and plasma. Isovaleric acid in the plasma and urine, 2.86 mg/liter and 2.56 mg/day, respectively, was only five to six times larger than that found in normal individuals. Formation and excretion of isovalerylglycine may be a compensatory mechanism for the elimination of toxic amounts of isovaleric acid from the body. Biosynthesis of such huge amounts of isovalerylglycine may alter the overall metabolism of glycine. Isovaleric acidemia may present with hyperglycinemia and hyperglycinuria. Examination of the urine for isovalerylglycine is a convenient method for detecting the syndrome of isovaleric acidemia. SpeculationIsovaleric acidemia, in common with propionic acidemia with ketotic hyperglycinemia and methylmalonic acidemia, produces dramatic episodes of ketoacidosis. It is now clear that, like these conditions, isovaleric acidemia can also produce leukopenia and elevated concentrations of glycine in body fluids. The mechanisms causing these abnormalities are unknown. Elucidation of metabolic interfaces among these conditions could lead to understanding of the pathophysiology involved.

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Propionicacidemia, a New Inborn Error of Metabolism

Cited by 144 publications

References 3 publications

Magnetic Resonance Imaging and Spectroscopy of the Brain in Propionic Acidemia: Clinical and Biochemical Considerations

Magnetic Resonance Imaging and Spectroscopy of the Brain in Propionic Acidemia: Clinical and Biochemical Considerations

Accumulation of Odd-Numbered Long-Chain Fatty Acids in Fetuses and Neonates with Inherited Disorders of Propionate Metabolism

Isovaleric Acidemia Presenting with Altered Metabolism of Glycine

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