Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.
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.
Lin
Henry J
HJ
Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA. hlin@labiomed.org
Neidich
Julie A
JA
Salazar
Denise
D
Thomas-Johnson
Evangela
E
Ferreira
Barbara F
BF
Kwong
Alan M
AM
Lin
Amy M
AM
Jonas
Adam J
AJ
Levine
Steven
S
Lorey
Fred
F
Rosenblatt
David S
DS
D000328:Adult; D002331:Carnitine / Q000378:metabolism*; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D005260:Female; D006712:Homocystinuria / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D010088:Oxidoreductases; D011644:Puerperal Disorders / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism
D002352:Carrier Proteins; C508359:MMACHC protein, human; D010088:Oxidoreductases; D002331:Carnitine