| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
1 DA |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
Not Reported |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
OTC, C.472DUPT, FRAMESHIFT, EXON 3 |
| Zygosity: |
Hemizygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
1 DAY |
| Age at Diagnosis: |
NEWBORN SCREENING |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Uncategorized Symptoms: |
PAST HYPERAMMONEMIC EVENTS |
| Testing Performed |
| Neurological Testing: |
NORMAL EXAM AT 8 YEARS OF AGE |
| Metabolic, Hematologic, and Endocrinologic Testing: |
OROTIC ACID: 3391.4 MMOL/MOL CREAT |
| Treatments and Assistive Devices |
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| Additional Testing: |
PROTEIN RESTRICTION
CITRULLINE ARGININE SUPPLEMENT |
| Medications |
| Family History |
| Remarks |
Clinically affected; onset of symptoms on day 1 of of age; diagnosed during newborn screening; past hyperammonemic events; elevated orotate; orotic acid: 3391.4 mmol/mol creatinine; pathogenic mutation in exon 3, codon 86 of the OTC gene: c.472dupT (TTT t) |