Combined vitamin responsiveness in homocystinuria

Grant Morrow; Lewis A. Barness

doi:10.1016/S0022-3476(72)80548-1

Combined vitamin responsiveness in homocystinuria

Grant Morrow
, Lewis A. Barness

Pediatrics

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

24 Scopus citations

Abstract

Studies in four patients with homocystinuria secondary to cystathionine synthase deficiency revealed varying degrees of folic acid deficiency. One patient responded biochemically to pyridoxine but only after administration of folic acid. Plasma and urine amino acid concentrations after repletion with folic acid support the hypothesis that in vivo remethylation of homocysteine to methionine is a functionally important metabolic step in both normal individuals and patients with homocystinuria.

Original language	English
Pages (from-to)	946-954
Number of pages	9
Journal	The Journal of Pediatrics
Volume	81
Issue number	5
DOIs	https://doi.org/10.1016/S0022-3476(72)80548-1
State	Published - Nov 1972

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title = "Combined vitamin responsiveness in homocystinuria",

abstract = "Studies in four patients with homocystinuria secondary to cystathionine synthase deficiency revealed varying degrees of folic acid deficiency. One patient responded biochemically to pyridoxine but only after administration of folic acid. Plasma and urine amino acid concentrations after repletion with folic acid support the hypothesis that in vivo remethylation of homocysteine to methionine is a functionally important metabolic step in both normal individuals and patients with homocystinuria.",

author = "Grant Morrow and Barness, \{Lewis A.\}",

note = "Funding Information: From the Department of Pediatrics. Hospital of the University of Pennsylvania, and the University of Pennsylvania School of Medicine. Supported in part by United States Public Health Service Grants\textasciitilde{}Nos. AM-02231, HD-06575, and CRC NIH RR-40.",

year = "1972",

month = nov,

doi = "10.1016/S0022-3476(72)80548-1",

language = "English",

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journal = "The Journal of Pediatrics",

issn = "0022-3476",

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T1 - Combined vitamin responsiveness in homocystinuria

AU - Morrow, Grant

AU - Barness, Lewis A.

N1 - Funding Information: From the Department of Pediatrics. Hospital of the University of Pennsylvania, and the University of Pennsylvania School of Medicine. Supported in part by United States Public Health Service Grants~Nos. AM-02231, HD-06575, and CRC NIH RR-40.

PY - 1972/11

Y1 - 1972/11

N2 - Studies in four patients with homocystinuria secondary to cystathionine synthase deficiency revealed varying degrees of folic acid deficiency. One patient responded biochemically to pyridoxine but only after administration of folic acid. Plasma and urine amino acid concentrations after repletion with folic acid support the hypothesis that in vivo remethylation of homocysteine to methionine is a functionally important metabolic step in both normal individuals and patients with homocystinuria.

AB - Studies in four patients with homocystinuria secondary to cystathionine synthase deficiency revealed varying degrees of folic acid deficiency. One patient responded biochemically to pyridoxine but only after administration of folic acid. Plasma and urine amino acid concentrations after repletion with folic acid support the hypothesis that in vivo remethylation of homocysteine to methionine is a functionally important metabolic step in both normal individuals and patients with homocystinuria.

UR - https://www.scopus.com/pages/publications/0015424383

U2 - 10.1016/S0022-3476(72)80548-1

DO - 10.1016/S0022-3476(72)80548-1

M3 - Article

C2 - 5086722

AN - SCOPUS:0015424383

SN - 0022-3476

VL - 81

SP - 946

EP - 954

JO - The Journal of Pediatrics

JF - The Journal of Pediatrics

IS - 5

ER -

Combined vitamin responsiveness in homocystinuria

Abstract

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