Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: Effects of vitamin B6

David K. Rassin; Riccardo C. Longhi; Gerald E. Gaull

doi:10.1016/S0022-3476(77)80505-2

Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: Effects of vitamin B₆

David K. Rassin
, Riccardo C. Longhi
, Gerald E. Gaull

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

5 Scopus citations

Abstract

Patients with homocystinuria due to cystathionine synthase deficiency do not have free homocystine inthe liver when it is present in high concentrations in the plasma and the urine. The liver of these patients is capable of maintaining normal concentrations of cystine at a time when the plasma cystine concentration is severely reduced. There is an increase in the methionine concentration of the liver which is reduced to normal concentrations during pyridoxine therapy.

Original language	English (US)
Pages (from-to)	574-577
Number of pages	4
Journal	The Journal of Pediatrics
Volume	91
Issue number	4
DOIs	https://doi.org/10.1016/S0022-3476(77)80505-2
State	Published - Oct 1977
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(77)80505-2

Cite this

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title = "Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: Effects of vitamin B6",

abstract = "Patients with homocystinuria due to cystathionine synthase deficiency do not have free homocystine inthe liver when it is present in high concentrations in the plasma and the urine. The liver of these patients is capable of maintaining normal concentrations of cystine at a time when the plasma cystine concentration is severely reduced. There is an increase in the methionine concentration of the liver which is reduced to normal concentrations during pyridoxine therapy.",

author = "Rassin, \{David K.\} and Longhi, \{Riccardo C.\} and Gaull, \{Gerald E.\}",

note = "Funding Information: From the Department of Human Development and Genetics, Institute for Basic Research in Mental Retardation, and Department of Pediatrics and Clinical Genetics Center, Mount Sinai School of Medicine of the City University of New York. Supported by the New York State Department of Mental Hygiene, National Institutes of Health Clinical Genetics Center Grant GM-19443 and NIH Grant 00071. *Reprint address: Department of Human Development and Genetics, Institute for Basic Research in Mental Retardation, 1050 Forest Hill Road. Staten Island, NY 10314.",

year = "1977",

month = oct,

doi = "10.1016/S0022-3476(77)80505-2",

language = "English (US)",

volume = "91",

pages = "574--577",

journal = "The Journal of Pediatrics",

issn = "0022-3476",

publisher = "Elsevier Inc.",

number = "4",

}

TY - JOUR

T1 - Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency

T2 - Effects of vitamin B6

AU - Rassin, David K.

AU - Longhi, Riccardo C.

AU - Gaull, Gerald E.

N1 - Funding Information: From the Department of Human Development and Genetics, Institute for Basic Research in Mental Retardation, and Department of Pediatrics and Clinical Genetics Center, Mount Sinai School of Medicine of the City University of New York. Supported by the New York State Department of Mental Hygiene, National Institutes of Health Clinical Genetics Center Grant GM-19443 and NIH Grant 00071. *Reprint address: Department of Human Development and Genetics, Institute for Basic Research in Mental Retardation, 1050 Forest Hill Road. Staten Island, NY 10314.

PY - 1977/10

Y1 - 1977/10

N2 - Patients with homocystinuria due to cystathionine synthase deficiency do not have free homocystine inthe liver when it is present in high concentrations in the plasma and the urine. The liver of these patients is capable of maintaining normal concentrations of cystine at a time when the plasma cystine concentration is severely reduced. There is an increase in the methionine concentration of the liver which is reduced to normal concentrations during pyridoxine therapy.

AB - Patients with homocystinuria due to cystathionine synthase deficiency do not have free homocystine inthe liver when it is present in high concentrations in the plasma and the urine. The liver of these patients is capable of maintaining normal concentrations of cystine at a time when the plasma cystine concentration is severely reduced. There is an increase in the methionine concentration of the liver which is reduced to normal concentrations during pyridoxine therapy.

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DO - 10.1016/S0022-3476(77)80505-2

M3 - Article

C2 - 908976

AN - SCOPUS:0017660054

SN - 0022-3476

VL - 91

SP - 574

EP - 577

JO - The Journal of Pediatrics

JF - The Journal of Pediatrics

IS - 4

ER -

Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: Effects of vitamin B₆

Abstract

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