| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
16 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
5 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
TARGETED SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A HETEROZYGOUS PATHOGENIC VARIANT (C.522G>A) IN EXON 5 OF THE GAMT GENE (NM_000156.6) RESULTING IN A NONSENSE MUTATION (P.W174X). TARGETED SEQUENCING ANALYSIS OF GENOMIC DNA ALSO REVEALED A HETEROZYGOUS VARIANT (C.327G>A) IN EXON 2 OF THE GAMT GENE (NM_000156.6) RESULTING IN A SPLICE SITE MUTATION (P.K109K) |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS |
| Age at Diagnosis: |
5 YEARS, 9 MONTHS |
| In Utero History Information |
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| Birth History Information |
| |
Jaundice
|
| Additional Information: |
LOW FETAL HEART RATE |
| Dysmorphic Features |
| |
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| Neurological Symptoms |
| |
Hypotonia
Seizures
Unstable gait
|
| Additional Information: |
INTRACTABLE SEIZURES |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
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| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
| |
Learning disability
|
| Additional Information: |
NON-VERBAL; AT 5 YRS OLD: SOME STEROTYPIES AND OBSESSIVE BEHAVIOR |
| Additional Information |
| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
AT 5 YRS OLD: PLASMA CREATINE (MICROMOLES/L) 6.9 L (20-110 NORMAL RANGE ABOVE 2YRS); PLASMA GUANIDINOACETATE (MICROMOLES/L) 17.9 H (0.3-2.8 NORMAL RANGE ABOVE 2YRS); URINARY GUANIDINOACETATE (MICROMOLES/L) 1968 H (20-656 NORMAL RANGE 0-6 YRS); GUANIDINOACETATE/CREATINE (MILLIMOLES/MOLE) 556 H (10-130 NORMAL RANGE 0-6 YRS) |
| Uncategorized Testing: |
AT 5 YRS OLD: VALPROIC ACID DETECTED; ELEVATED URACIL |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Communication or learning devices
|
| Medications |
| |
CREATINE; ORNITHINE; PROTEIN RESTRICTION; LEVETIRACETAM (KEPPRA) 100MG/ML; DIASTAT ACUDIAL (5-7.5-10 MG); DEPAKOTE (125 MG); DIAZEPAM (5 MG/5 ML) |
| Family History |