| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
17 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
2 YR |
| Age at Diagnosis(If not a control) |
17 YR |
| Racial Category |
White |
| Country |
UNITED KINGDOM |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
MUTATION IN SLC6A8 GENE: C.373A>T AT POSITION 153,690,485, NM_005629.3(P.ASN125TYR, NP_005620.1) |
| Zygosity: |
Heterozygous |
| Other variants: |
OTHER VARIANTS: HCFC1 C.2590G>A AT POSITION 153,956,670, NM005334.2 (P.ALA864THR, NP_005325.2), AND MTCO3 C.263C>T AT POSITION 9,469, ENST00000362079 (P.THR88ILE, ENSP_00000354982.2) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 YEARS |
| Age at Diagnosis: |
17 YEARS; DIAGNOSED BY GENETICIST |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Additional Information: |
RESTING TREMORS, EPILEPSY |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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Attention deficit hyperactivity disorder
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| Additional Information: |
SLD, MENTALLY 2 YEARS OLD AT 17 YEARS OF AGE |
| Additional Information |
| Testing Performed |
| Cognitive and Behavioral Testing: |
BRAIN MRI CONFIRMED CEREBRAL CREATINE DEFICIENCY |
| Metabolic, Hematologic, and Endocrinologic Testing: |
URINE TEST SHOWED GREATLY INCREASED URINARY CREATINE CONSISTENT WITH DIAGNOSIS; URINE GAA IS AT THE TOP OF NORMAL RANGE; PLASMA GAA IS WITHIN NORMAL RANGE |
| Treatments and Assistive Devices |
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Occupational therapy
Physical therapy
Speech therapy
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| Additional Testing: |
PSYCHOLOGICAL THERAPY |
| Medications |
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RISPERIDONE |
| Family History |
| Remarks |
See Phenotypic Data tab. |