| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
10 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
12 MO |
| Age at Diagnosis(If not a control) |
35 MO |
| 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: |
MUTATION IN GAMT (NM_000156.4), C.1A>G (P.MET1), ON EXON 1 |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
GAMT, C.328G>T (P.VAL110PHE), EXON 3 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
12 MONTHS |
| Age at Diagnosis: |
35 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Jaundice
Difficulty breathing
Caesarian section
Premature delivery
|
| Additional Information: |
DIFFICULTY FEEDING W/ HAL ASSISTANCE; PULMONARY SEQUESTRATION FOLLOWED BY PULMONARY AND CARDIOLOGY |
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
Seizures
|
| Additional Information: |
3 GENERALIZED TONIC-CLONIC SEIZURES LAST 1.5 YRS. LAST ONE AT 11.5 YEARS OF AGE; EPISODES OF STIFFENING THEN LOSS OF TONE
EPILEPSY WITH BOTH FOCAL AND GENERALIZED FEATURES |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
EPISODES OF EYE FLUTTER WITH ALTERED AWARENESS |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
Gastrointestinal reflux
|
| Additional Information: |
REFLUX MANAGEMENT WITH PEPCID
THROAT PAIN |
| Genitourinary Symptoms |
| |
|
| Additional Information: |
LABS: PLASMA GAA 2.5; CREATINE 471.1; URINARY GAA TYPICAL RANGE |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Behavioral problems
Aggression
Sleep disturbances
|
| Intellectual Disability: |
Mild |
| Additional Information: |
INTELLECTUAL DISABILITY
IRRITABILITY |
| Additional Information |
| Uncategorized Symptoms: |
HUMIDIFIER AND SALINE FOR NOSE BLEEDS |
| Testing Performed |
| Neurological Testing: |
MR SPECTROSCOPY WITH DEPRESSED CREATINE PEAK AND FOCAL CORTICAL DYSPLASIA; AMBULATORY EEG SHOWED EPILEPTIFORM DISCHARGES; LONG TERM EEG MONITORING FOR DIFFUSE SLOWING, BILATERAL TEMPORAL SLOWING AND MULTIFOCAL SLOWING OVER RIGHT TEMPORAL REGION; DIFFUSE DISCHARGES INVOLVING EPILEPTOGENIC ZONES WITHIN EACH HEMISPHERE (MYOCLONIC ASTATIC EPILEPSY)
MRI: LEFT FRONTAL SUBCORTICAL HETEROTOPIA
EEG: INCREASED GENERALIZED EPILEPTOGENIC POTENTIAL AND FOCAL BIFRONTAL EPILEPTOGENIC POTENTIAL |
| Metabolic, Hematologic, and Endocrinologic Testing: |
PLASMA CREATINE 865.5 (H), GUANIDINOACETATE 17.3 (H).
URINARY GUANIDINOACETATE/CREATINE 1120 (H), CREATINE/CREATININE 11127 (H).
ESSENTIALLY NORMAL PLASMA AMINO ACIDS |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Additional Testing: |
LIFE SKILL CLASS
LIGHT BOX FOR SEASONAL NEGATIVE BEHAVIORS |
| Medications |
| |
CREATINE MONOHYDRATE LIQUID (15ML); CREATINE MONOHYDRATE PWD (21.3GM); ORNITHINE HCI (28GM); SODIUM BENZOATE (250 MG/ML); LEVETIRACETAM (100 MG/ML); LAMOTRIGINE (250 MG X2); NOVAFERRUM (15 MG/ML); PEPCID (8MG/ML); POTASSIUM CITRATE-CITRIC ACID (4ML); MULTIVITAMINS/ IRON (1 TAB); DIAZEPAM (10MG); TRIAMCINOLONE; CLOBAZAM SEDATION (DISCONTINUED)
PROTEIN RESTRICTED DIET |
| Family History |
| Remarks |
Clinically affected. Global developmental delay with language mostly affected. Seizures starting at 2 and a half years. Intellectual disability; behavior problems. See "Phenotypic Data" Tab |