| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
7 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
3 MO |
| Age at Diagnosis(If not a control) |
18 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
ROMANIA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
ECHS1, C.817A>G (P.LYS273GLU), MISSENSE |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
ECHS1, C.476A>G (P.GLN159ARG), MISSENSE |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
3-4 MONTHS |
| Age at Diagnosis: |
18 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Failure to thrive
Caesarian section
|
| Additional Information: |
MILD AXIAL HYPOTONIA AT BIRTH. METABOLIC ACIDOSIS AT 3 MONTHS. IRRITABILITY, VOMITING, AND POOR WEIGHT GAIN DUE TO GASTROESOPHAGEAL REFLUX AT 4 MONTHS. COGNITIVE REGRESS, AND ABNORMAL EYE MOVEMENTS AT 6 MONTHS. |
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Dystonia
Hypotonia
Seizures
Sleep abnormalities
Basal ganglia damage
|
| Additional Information: |
CEREBRAL ATROPHY; SLEEP DISORDERS; FACIAL AND LIMB DYSTONIA; GRIMACING; CLENCHED FISTS; BASAL GANGLIA LESIONS |
| Optical and Audiological Symptoms |
| |
Nystagmus
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Holding Head Up Without Assistance: |
Achieved and maintained |
| Sitting Without Assistance: |
Achieved and maintained |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
LACTIC ACIDOSIS; SWALLOWING DIFFICULTIES |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
3-HYDROXYISOVALERIC ACID 116 (H)
PYRUVIC ACID 51 (H)
VANILLYLMANDELIC ACID 25 (H)
SLIGHTLY INCREASED 2-METHYL-2,3-DIHYDROXYBUTRIC ACID |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Communication or learning devices
|
| Surgeries |
PERCUTANEOUS ENDOSCOPIC GASTROSTOMY (PEG) TUBE INSERTION RESULTED IN WEIGHT GAIN |
| Medications |
| |
LEVETIRACETAM ATTEMPTED BUT STOPPED AFTER IT WORSENED SYMPTOMS. COCKTAIL OF THIAMINE, CARNITINE, AND FOLINIC ACID, AND COENZYME Q10 WITH NO IMPROVEMENT. ESOMEPRAZOLE. L-ARGININE REDUCED LACTATE LEVELS AND IMPROVED SYMPTOMS. VALINE-RESTRICTED DIET IMPROVED SYMPTOMS OF DYSTONIA AND MUSCLE SPASMS W/I A YEAR |
| Family History |
| |
A SISTER MISDIAGNOSED AND DECEASED AT AGE OF 1. POST-MORTEM ANALYSIS CONFIRMED ECHS1 DEFICIENCY WITH THE SAME MUTATION. PARENTS WERE UNAFFECTED CARRIERS. |
| Remarks |
Clinically affected. Psychomotor developmental delay. Lactic acidosis. Basal ganglia lesions. Detailed clinical history reported in literature (PMID: 35206276). |