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.
authors.affiliation: Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA. hlin@labiomed.org
authors.forename: Henry J
authors.initials: HJ
authors.lastname: Lin
authors.forename: Julie A
authors.initials: JA
authors.lastname: Neidich
authors.forename: Denise
authors.initials: D
authors.lastname: Salazar
authors.forename: Evangela
authors.initials: E
authors.lastname: Thomas-Johnson
authors.forename: Barbara F
authors.initials: BF
authors.lastname: Ferreira
authors.forename: Alan M
authors.initials: AM
authors.lastname: Kwong
authors.forename: Amy M
authors.initials: AM
authors.lastname: Lin
authors.forename: Adam J
authors.initials: AJ
authors.lastname: Jonas
authors.forename: Steven
authors.initials: S
authors.lastname: Levine
authors.forename: Fred
authors.initials: F
authors.lastname: Lorey
authors.forename: David S
authors.initials: DS
authors.lastname: Rosenblatt
mesh_terms: 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
chemical_list: D002352:Carrier Proteins; C508359:MMACHC protein, human; D010088:Oxidoreductases; D002331:Carnitine