| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
13 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
1 MO |
| Age at Diagnosis(If not a control) |
2 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: |
ALDH5A1, C.612G>A (P.W204X), NONSENSE, EXON 4 |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
ALDH5A1, C.1273C>T (P.R425X), NONSENSE, EXON 9 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
1 MONTH |
| Age at Diagnosis: |
2 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
| |
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| Neurological Symptoms |
| |
Hypotonia
|
| Optical and Audiological Symptoms |
| |
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| Musculoskeletal Symptoms |
| |
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| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Additional Information: |
UNSPECIFIED MOTOR 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 |
| |
Attention deficit hyperactivity disorder
|
| Additional Information: |
INTELLECTUAL DISABILITY
OBSESSIVE-COMPULSIVE DISORDER |
| Additional Information |
| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
URINE ORGANIC ACID: GHB > 500 MMOL/MOL CREATININE; EXCRETION OF 4-HYDROXY-BUTYRIC ACID MARKEDLY INCREASED >200 MMOL/MOL CREATINE; 3-OH-BUTYRIC ACID 13 MMOL/MOL CREATINE AND ACETOACETIC ACID 8 MMOL/MOL CREATINE |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Communication or learning devices
music therapy
|
| Medications |
| Family History |
| |
ONE AFFECTED BROTHER |
| Remarks |
Clinically affected. Hypotonia, intellectual disability, developmental delay, ADHD, obsessive-compulsive disorder, speech impairment, motor delays. Compound heterozygous mutation c.612G>A (p.W204X), c.1273C>T (p.R425X) of the ALDH5A1 gene. Affected brother is GM28821 (LCL). |