In vitro "responsive" methylmalonic acidemia: A new variant

Celia I. Kaye; Grant Morrow; Henry L. Nadler

doi:10.1016/S0022-3476(74)80285-4

In vitro "responsive" methylmalonic acidemia: A new variant

Celia I. Kaye, Grant Morrow, Henry L. Nadler

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

Abstract

Two infants with elevated levels of methylmalonic acid in plasma and urine were found to have abnormal metabolism of propionate-1-¹⁴C in cultivated skin fibroblasts and deficient activity of methylmalonyl CoA carbonyl mutase in homogenates of liver and fibroblasts. Addition of 5′-deoxyadenosylcobalamin to the assay systems corrected these defects. Despite the in vitro responses, parenteral treatment of the patients with high doses of vitamin B₁₂ failed to decrease plasma or urinary methylmalonic acid. One of the patients exhibited significant hyperammonemia but failed to develop acidosis or ketosis throughout her clinical course. The significance of this new variant of methylmalonic acidemia with respect to the enzymatic basis of this inborn error and with respect to prenatal detection and genetic counseling is discussed.

Original language	English (US)
Pages (from-to)	55-59
Number of pages	5
Journal	The Journal of pediatrics
Volume	85
Issue number	1
DOIs	https://doi.org/10.1016/S0022-3476(74)80285-4
State	Published - Jul 1974
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(74)80285-4

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title = "In vitro {"}responsive{"} methylmalonic acidemia: A new variant",

abstract = "Two infants with elevated levels of methylmalonic acid in plasma and urine were found to have abnormal metabolism of propionate-1-14C in cultivated skin fibroblasts and deficient activity of methylmalonyl CoA carbonyl mutase in homogenates of liver and fibroblasts. Addition of 5′-deoxyadenosylcobalamin to the assay systems corrected these defects. Despite the in vitro responses, parenteral treatment of the patients with high doses of vitamin B12 failed to decrease plasma or urinary methylmalonic acid. One of the patients exhibited significant hyperammonemia but failed to develop acidosis or ketosis throughout her clinical course. The significance of this new variant of methylmalonic acidemia with respect to the enzymatic basis of this inborn error and with respect to prenatal detection and genetic counseling is discussed.",

author = "Kaye, {Celia I.} and Grant Morrow and Nadler, {Henry L.}",

note = "Funding Information: From the Division of Genetics, Children's Memorial Hospital Department of Pediatrics, Northwestern University Medical School, Chicago, and the Department of Pediatrics, University of Arizona. These studies were supported by grants from The National Institutes of Health HD 00036, The National Foundation-March of Dimes, The Chicago Community Trust, and The Spastic Paralysis Research Foundation. *Reprint address: Henry L. Nadler, M.D., Irene Heinz Given and John La Porte Given R esearch Professoro f Pediatrics, Children's Memorial Hospital, 2300 Children'sP laza, Chicago, Ill. 60614.",

year = "1974",

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doi = "10.1016/S0022-3476(74)80285-4",

language = "English (US)",

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TY - JOUR

T1 - In vitro "responsive" methylmalonic acidemia

T2 - A new variant

AU - Kaye, Celia I.

AU - Morrow, Grant

AU - Nadler, Henry L.

N1 - Funding Information: From the Division of Genetics, Children's Memorial Hospital Department of Pediatrics, Northwestern University Medical School, Chicago, and the Department of Pediatrics, University of Arizona. These studies were supported by grants from The National Institutes of Health HD 00036, The National Foundation-March of Dimes, The Chicago Community Trust, and The Spastic Paralysis Research Foundation. *Reprint address: Henry L. Nadler, M.D., Irene Heinz Given and John La Porte Given R esearch Professoro f Pediatrics, Children's Memorial Hospital, 2300 Children'sP laza, Chicago, Ill. 60614.

PY - 1974/7

Y1 - 1974/7

N2 - Two infants with elevated levels of methylmalonic acid in plasma and urine were found to have abnormal metabolism of propionate-1-14C in cultivated skin fibroblasts and deficient activity of methylmalonyl CoA carbonyl mutase in homogenates of liver and fibroblasts. Addition of 5′-deoxyadenosylcobalamin to the assay systems corrected these defects. Despite the in vitro responses, parenteral treatment of the patients with high doses of vitamin B12 failed to decrease plasma or urinary methylmalonic acid. One of the patients exhibited significant hyperammonemia but failed to develop acidosis or ketosis throughout her clinical course. The significance of this new variant of methylmalonic acidemia with respect to the enzymatic basis of this inborn error and with respect to prenatal detection and genetic counseling is discussed.

AB - Two infants with elevated levels of methylmalonic acid in plasma and urine were found to have abnormal metabolism of propionate-1-14C in cultivated skin fibroblasts and deficient activity of methylmalonyl CoA carbonyl mutase in homogenates of liver and fibroblasts. Addition of 5′-deoxyadenosylcobalamin to the assay systems corrected these defects. Despite the in vitro responses, parenteral treatment of the patients with high doses of vitamin B12 failed to decrease plasma or urinary methylmalonic acid. One of the patients exhibited significant hyperammonemia but failed to develop acidosis or ketosis throughout her clinical course. The significance of this new variant of methylmalonic acidemia with respect to the enzymatic basis of this inborn error and with respect to prenatal detection and genetic counseling is discussed.

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In vitro "responsive" methylmalonic acidemia: A new variant

Abstract

ASJC Scopus subject areas

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