| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
9 MO |
| Age at Diagnosis(If not a control) |
15 MO |
| Racial Category |
White |
| Country |
MEXICO |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
ECHS1, C.673T>C, P.CYS225ARG, WHOLE-EXOME SEQUENCING |
| Other variants: |
G6PD DEFICIENCY ANEMIA TRAIT (NEWBORN SCREEN) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
9 MONTHS |
| Age at Diagnosis: |
15 MONTHS |
| In Utero History Information |
| |
|
| Additional Information: |
UNCOMPLICATED PREGNANCY |
| Birth History Information |
| |
Positive newborn screen
Caesarian section
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Dystonia
Hypotonia
White matter issues
Basal ganglia damage
|
| Additional Information: |
TONE REDUCED AXIALLY AND INCREASED IN LEGS
DYSTONIC POSTURING OF FEET |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
POOR VISUAL FIXATION
ROVING EYE MOVEMENTS, POOR FIX AND FOLLOW
SUSPECTED CEREBRAL VISUAL IMPAIRMENT |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
SIX LEG FRACTURES
MUSCLE SPASMS |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Abnormal height for age
|
| Holding Head Up Without Assistance: |
Achieved but not maintained |
| Sitting Without Assistance: |
Not achieved and not maintained |
| Walking Without Assistance: |
Not achieved and not maintained |
| Running: |
Not achieved and not maintained |
| Additional Information: |
GLOBAL DEVELOPMENTAL REGRESSION AT 10 MONTHS: LOST ALL MOTOR ABILITIES
SHORT STATUS |
| Gastrointestinal Symptoms |
| |
Gastrointestinal reflux
Eating difficulties
|
| Additional Information: |
GASTROPARESIS
RECURRENT VOMITING
SWALLOWING CONCERNS
TWO EPISODES OF SEVERE METABOLIC ACIDOSIS
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Sleep disturbances
|
| Additional Information: |
IRRITABILITY
|
| Additional Information |
| Uncategorized Symptoms: |
LETHARGY
ANEMIA, IRON DEFICIENCY
PAST CRY EPISODES |
| Testing Performed |
| Neurological Testing: |
BRAIN MRI AT 10 MONTHS: T2 SIGNAL ABNORMALITY AND DIFFUSION ABNORMALITIES IN THE GLOBUS PALLIDUS, STRIATUM AND SUBSTANTIA NIGRA, LEIGH-LIKE CHANGES IN BASAL GANGLIA |
| Metabolic, Hematologic, and Endocrinologic Testing: |
METABOLIC ACIDOSIS
PLASMA ALANINE LEVEL NORMALIZED AFTER LOW VALINE DIET + KETONEX-1
VALINE: 77 (L)
ORNITHINE: 92 (H)
CO2: 18 (L)
ANION GAP: 22 (H)
CALCIUM: 10.6 (H)
PHOSPHORUS: 5.8 (H)
CK: 212 (H)
TAURINE: 101 (H)
ASPARTIC ACID: 12 (H)
GLUTAMIC ACID: 102 (H)
ALANINE: 735 (H) |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Wheelchair or ambulation devices
|
| Surgeries |
G-TUBE PLACED
PYLOROPLASTY
NISSEN FUNDOPLICATION |
| Additional Testing: |
ANAT BANIEL METHOD FOR NEUROMOVEMENT |
| Medications |
| |
BIOTIN 100 MG/DAY
COQ10 70 MG/DAY
VITAMIN E 400 IU/DAY
DHA 2.5 ML/DAY
LEVOCARNITINE
IRON
VITAMIN D
NAC 261 MG Q8H
PREVIOUSLY TRIED RIBOFLAVIN - CAUSED NAUSEA
LOW VALINE DIET SUPPLEMENTED WITH KETONEX-1
CLONAZEPAM
NEXIUM |
| Family History |
| |
DISTANT CONSANGUINITY |
| Remarks |
Clinically affected; global developmental delay, abnormalities of the brain, dystonia, central hypotonia; homozygous mutation in the ECHS1 gene c.673T>C (p.Cys225Arg). Karyotype 46,XX.arr(1-22,X)x2; see "Phenotypic Data Tab"; unaffected carrier mother is GM28473 (fibro) and unaffected carrier father is GM28474 (fibro). |