Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC ) detected through low carnitine levels on newborn screening

Henry J. Lin; Julie A. Neidich; Denise Salazar; Evangela Thomas-Johnson; Barbara F. Ferreira; Alan M. Kwong; Amy M. Lin; Adam J. Jonas; Steven Levine; Fred Lorey; David S. Rosenblatt

doi:10.1016/j.jpeds.2009.06.046

Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC ) detected through low carnitine levels on newborn screening

Henry J. Lin, Julie A. Neidich, Denise Salazar, Evangela Thomas-Johnson, Barbara F. Ferreira, Alan M. Kwong, Amy M. Lin, Adam J. Jonas, Steven Levine, Fred Lorey, David S. Rosenblatt

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

30 Scopus citations

Abstract

A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B ₁₂ metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.

Original language	English
Pages (from-to)	924-927
Number of pages	4
Journal	Journal of Pediatrics
Volume	155
Issue number	6
DOIs	https://doi.org/10.1016/j.jpeds.2009.06.046
State	Published - Dec 2009

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Lin, H. J., Neidich, J. A., Salazar, D., Thomas-Johnson, E., Ferreira, B. F., Kwong, A. M., Lin, A. M., Jonas, A. J., Levine, S., Lorey, F., & Rosenblatt, D. S. (2009). Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC ) detected through low carnitine levels on newborn screening. Journal of Pediatrics, 155(6), 924-927. https://doi.org/10.1016/j.jpeds.2009.06.046

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title = "Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC ) detected through low carnitine levels on newborn screening",

abstract = "A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B 12 metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.",

author = "Lin, {Henry J.} and Neidich, {Julie A.} and Denise Salazar and Evangela Thomas-Johnson and Ferreira, {Barbara F.} and Kwong, {Alan M.} and Lin, {Amy M.} and Jonas, {Adam J.} and Steven Levine and Fred Lorey and Rosenblatt, {David S.}",

year = "2009",

month = dec,

doi = "10.1016/j.jpeds.2009.06.046",

language = "English",

volume = "155",

pages = "924--927",

journal = "Journal of Pediatrics",

issn = "0022-3476",

number = "6",

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Lin, HJ, Neidich, JA, Salazar, D, Thomas-Johnson, E, Ferreira, BF, Kwong, AM, Lin, AM, Jonas, AJ, Levine, S, Lorey, F & Rosenblatt, DS 2009, 'Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC ) detected through low carnitine levels on newborn screening', Journal of Pediatrics, vol. 155, no. 6, pp. 924-927. https://doi.org/10.1016/j.jpeds.2009.06.046

TY - JOUR

T1 - Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC ) detected through low carnitine levels on newborn screening

AU - Lin, Henry J.

AU - Neidich, Julie A.

AU - Salazar, Denise

AU - Thomas-Johnson, Evangela

AU - Ferreira, Barbara F.

AU - Kwong, Alan M.

AU - Lin, Amy M.

AU - Jonas, Adam J.

AU - Levine, Steven

AU - Lorey, Fred

AU - Rosenblatt, David S.

PY - 2009/12

Y1 - 2009/12

N2 - A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B 12 metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.

AB - A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B 12 metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.

UR - http://www.scopus.com/inward/record.url?scp=73949144057&partnerID=8YFLogxK

U2 - 10.1016/j.jpeds.2009.06.046

DO - 10.1016/j.jpeds.2009.06.046

M3 - Article

C2 - 19914430

AN - SCOPUS:73949144057

SN - 0022-3476

VL - 155

SP - 924

EP - 927

JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 6

ER -

Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC ) detected through low carnitine levels on newborn screening

Abstract

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