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Mol Genet Metab ; 142(1): 108455, 2024 May.
Article in English | MEDLINE | ID: mdl-38531184

ABSTRACT

Creatine transporter deficiency has been described with normal or uninformative levels of creatine and creatinine in plasma, while urine has been the preferred specimen type for biochemical diagnosis. We report a cohort of untreated patients with creatine transporter deficiency and abnormal plasma creatine panel results, characterized mainly by markedly decreased plasma creatinine. We conclude that plasma should be considered a viable specimen type for the biochemical diagnosis of this disorder, and abnormal results should be followed up with further confirmatory testing.


Subject(s)
Brain Diseases, Metabolic, Inborn , Creatine , Creatine/deficiency , Creatinine , Mental Retardation, X-Linked , Plasma Membrane Neurotransmitter Transport Proteins , Plasma Membrane Neurotransmitter Transport Proteins/deficiency , Humans , Creatine/blood , Creatine/urine , Creatinine/blood , Creatinine/urine , Plasma Membrane Neurotransmitter Transport Proteins/genetics , Plasma Membrane Neurotransmitter Transport Proteins/blood , Male , Female , Mental Retardation, X-Linked/genetics , Mental Retardation, X-Linked/blood , Mental Retardation, X-Linked/diagnosis , Child , Child, Preschool , Nerve Tissue Proteins/genetics , Nerve Tissue Proteins/blood , Nerve Tissue Proteins/deficiency , Infant , Adolescent , Membrane Transport Proteins/genetics , Membrane Transport Proteins/deficiency , Membrane Transport Proteins/blood , Adult
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