Observations on the coexistence of methylmalonic acidemia and glycinemia

Morrow, Grant; Barness, Lewis A.; Auerbach, Victor H.; DiGeorge, Angelo M.; Ando, Toshyuki; Nyhan, William L.

doi:10.1016/s0022-3476(69)80130-7

Cited by 75 publications

(20 citation statements)

References 13 publications

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“…Palmitoyl-CoA inhibition was not competitive with acetylCoA, but depended on the oxalacetate concentration, the ratio of enzyme to inhibitor, and the time of preincubation [23]. Inhibition of citrate synthase by propionyl-CoA or methylmalonyl-CoA may be important under certain physiological conditions, and could explain the keto-acidosis and general metabolic disturbances observed in patients with an inborn defect of methylmalonyl-CoA mutase or with vitamin BrZ deficiency [24,25].…”

Section: Resultsmentioning

confidence: 99%

Inhibition of citrate synthase by succinyl‐CoA and other metabolites

Smith

Williamson

1971

FEBS Letters

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Section: Resultsmentioning

confidence: 99%

Inhibition of citrate synthase by succinyl‐CoA and other metabolites

Smith

Williamson

1971

FEBS Letters

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“…Clinical pictures of methylmalonic acidemia, including acidosis, vomiting, lethargy, muscular hypotonia and failure to thrive (Oberholzer et al 1967;Lindblad et al 1967;Morrow et al 1969a) were observed in all the three cases of ours. But it was noticed that in Case 3, the amount of methylmalonic acid excreted in urine (9.3-14.30 mg/24 hr) was less than those for the cases reported as methylmalonic acidemia except for the following five cases: Giorgio's two adult cases (1976) which were free from clinical findings except for those of diabetes mellitus and showed urinary methylmalonic acid of 115 mg or less/24 hr, and Garnica's three infants (1976) which showed intermittent acidosis and urinary excretion of methylmalonic acid of 145 mg or less/24 hr.…”

Section: Discussionmentioning

confidence: 49%

“…Moreover, there was no overlap in the mutase activity of leukocytes between obligate heterozygotes and normal subjects. The mode of transmittance was reported as an autosomal recessive for both the apoenzyme defect and the vitamin B12 responsive variant (Morrow et al 1969a). Thus the assay technique for the mutase activity of leukocytes described here could be of value for the detection of heterozygotes with the vitamin B12 unresponsive type.…”

Section: Discussionmentioning

confidence: 99%

“…Clinically it is characteriz ed by metabolic acidosis, vomiting, lethargy, muscular hypotonia, and failure to thrive (Oberholzer et al 1967;Lindblad et al 1968; Morrow et al 1969a In 1972 Goodey and Gompertz investigated the mutase assay using leukocytes from patients with vitamin B12 responsive or unresponsive type of methylmalonic acidemia and reported that the mutase activity of leukocytes was not detected in normal subjects as well as in the patients when DBCC was not added to the assay media.…”

mentioning

confidence: 99%

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Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.

Narisawa

Saito

Hisa

et al. 1977

Tohoku J. Exp. Med.

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“…A syndrome of propionic acidemia reported by Hommes and colleagues [11] in a patient who died at 5 days of life with metabolic acidosis but without hyperglycinemia probably represents the same disorder. The clinical features of ketotic hyperglycinemia are also found regularly in methylmalonic acidemia [15], and they may be found in isovaleric acidemia [1].…”

Section: Introductionmentioning

confidence: 93%

The Oxidation of Glycine and Propionic Acid in Propionic Acidemia with Ketotic Hyperglycinemia

et al. 1972

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ExtractKetotic hyperglycinemia is a syndrome in which elevated concentrations of glycine occur in body fluids of patients who manifest life-threatening episodes of ketoacidosis very early in life. The disorder originally described under this heading is now known to be more reliably categorized by propionic acidemia than by hyperglycinemia. Studies of the metabolism of glycine and of propionate in this condition have been undertaken. Conversion of glycine-1-14 C and of propionate-1-U C to 14 CO 2 has been studied both in vivo and in vitro. Conversion of glycine-2-14 C to serine-3-14 C has been studied in vivo. It was found that the conversion of glycine-1-14 C to CO 2 in vivo was defective in all three of the patients with ketotic hyperglycinemia. At the earliest time points, the specific activities of expired CO 2 in control subjects varied from 25 to more than 60 dpm/jumole, whereas in patients these values did not exceed 10 and were less than 5 in two patients. Conversion of the second carbon of glycine to the third carbon of serine was normal. The relative specific activity of the third carbon was 20. This value was 2-10 times the values found previously in patients with nonketotic hyperglycinemia where this conversion is defective. Conversion of propionate-1-14 C to CO 2 was defective both in vivo and in vitro in patients with ketotic hyperglycinemia and with methylmalonic acidemia. In control subjects, specific activities of the CO 2 expired following injection of propionate-1-14 C approximated 200 dpm/^mole at the earliest time points, whereas in VB the comparable specific activity was close to 0. Activity of propionylcoenzyme A (CoA) carboxylase was absent in the fibroblasts of a patient with ketotic hyperglycinemia. Values of 15-30 dpm/5 mg protein obtained in the patient do not seem to differ significantly from 0, whereas in control subjects the values ranged from 985 to 2655 dpm/5 mg protein. These observations indicate that there are defects in the metabolism of both glycine and propionate in patients with ketotic hyperglycinemia. Speculation

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Observations on the coexistence of methylmalonic acidemia and glycinemia

Cited by 75 publications

References 13 publications

Inhibition of citrate synthase by succinyl‐CoA and other metabolites

Inhibition of citrate synthase by succinyl‐CoA and other metabolites

Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.

The Oxidation of Glycine and Propionic Acid in Propionic Acidemia with Ketotic Hyperglycinemia

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