Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel <i>SLC6A8</i> Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.

Tise, Christina G; Palma, Melinda J; Cusmano-Ozog, Kristina P; Matalon, Dena R

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.

Tise, Christina G; Palma, Melinda J; Cusmano-Ozog, Kristina P; Matalon, Dena R.

Affiliation

Tise CG; Stanford University, CA, USA.
Palma MJ; Stanford University, CA, USA.
Cusmano-Ozog KP; Stanford University, CA, USA.
Matalon DR; Stanford University, CA, USA.

J Investig Med High Impact Case Rep ; 11: 23247096231154438, 2023.

Article in En | MEDLINE | ID: mdl-36752093

Subject(s)

Brain Diseases, Metabolic, Inborn; Intellectual Disability; Humans; Infant; Male; Brain Diseases, Metabolic, Inborn/diagnosis; Brain Diseases, Metabolic, Inborn/genetics; Brain Diseases, Metabolic, Inborn/pathology; Creatine/genetics; Creatine/metabolism; Creatinine; Failure to Thrive; Intellectual Disability/genetics; Nerve Tissue Proteins/metabolism; Plasma Membrane Neurotransmitter Transport Proteins

Key words

case report; creatine transporter deficiency; developmental delay; failure to thrive; intellectual disability; neurodevelopmental disorder; newborn screening

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Full text: 1 Database: MEDLINE Main subject: Brain Diseases, Metabolic, Inborn / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Humans / Infant / Male Language: En Journal: J Investig Med High Impact Case Rep Year: 2023 Type: Article Affiliation country: United States

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