Case#: Index patient, 6 years old (age at report), caucasian, male

DiseaseAssertion: Creatine transporter deficiency

FamilyInfo: Mother and maternal grandmother have history of learning disabilities, severely retarded uncle, unnaffected aunt

CasePresentingHPOs: HP:0001290 , HP:0006863, HP:0000750, HP:0001256 (Hypotonia, severe expressive language delay, severe speech delay, mild mental retardation)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: Increased creatine levels in urine and plasma

Brain Magnetic Resonance Spectroscopy (MRS): Brain proton MRS revealed an almost complete absence of the creatine signal.

Creatine uptake assay: Creatine uptake was measured in total cell lysates, creatine concentration of 25 μM uptake level was negligible, and creatine concentration of1 25 μM uptake level was negligible.

Variant: No varient ID directly identified. Hemizygous nonsense mutation, A 1539C→T transition in SLC6A8 (GenBank accession number NM_005629) resulted in the substitution of an arginine codon by a termination codon (R514→X).

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

Zygosity: Hemizygous

MaternalGenotype: grandmother aunt, and mother heterozygous for mutation

AdditionalParentalTesting: N/A

AlsoPublished: PMID: 11261517

PMID: 11326334

Gene: SLC6A8

Disease: creatine transporter deficiency

Inheritance: X-linked

Case#: Case report, 6 years old (age at report), caucasian, male

DiseaseAssertion: Creatine transporter deficiency

FamilyInfo:

CasePresentingHPOs: HP:0032662, HP:0001252, HP:0010841, HP:0030891, HP:0001252

CaseHPOFreeText: Developmental delay and central hypotonia. At the age of 2 had partial status epilepticus, multifocal epileptiform discharges at interictal EEG, and small T2 hyperintense focus in the right posterior periventricular white matter on brain MRI. At the age of 6, his speech and language functions were severely retarded, and he had short attention span and mild hypotonia.

CaseNotHPOs: N/A

CaseNotHPOFreeText: Blood creatinine and GAA in serum and urine were normal, serum and urine creatine levels were high

Biochemical analyte testing: mild increase of blood and urinary creatine

Brain Magnetic Resonance Spectroscopy (MRS): N/A

Creatine uptake assay: N/A

Variant:N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

Zygosity:N/A

MaternalGenotype: N/A

AdditionalParentalTesting: N/A

AlsoPublished: PMID: 11261517, PMID: 11326334

PMID: 23157605

Gene: SLC6A8

Disease: Creatine transporter deficiency

Inheritance: X-linked

PMID: 21308988

Gene: SLC6A8

Disease: Creatine transporter deficiency

Inheritance: X-linked

Title annotation

PMID: 21308988

Gene: SLC6A8

Disease: Creatine transporter deficiency

Inheritance: X-linked

Case annotation

Case#: N/A

DiseaseAssertion: AGAT Deficiency

FamilyInfo: N/A

CasePresentingHPOs: HP:0000729, HP:0001249, HP:0002373, HP:0001252

CaseHPOFreeText: mental retardation, autistic behavior, febrile seizures, hypotonia

CaseNotHPOs: N/A

CaseNotHPOFreeText: Developmental Delays, slow somatic growth

Biochemical analyte testing: Plasma Creatine: low/normal and Urine Creatine: low/normal

Brain Magnetic Resonance Spectroscopy (MRS): N/A

Creatine uptake assay:

Variant:

ClinVarID:

CAID:

gnomAD:

Zygosity:

MaternalGenotype:

AdditionalParentalTesting:

AlsoPublished: