| ALPHA-AMINO-ADIPIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (AAASAD) | |
| PYRIDOXINE DEPENDENCY WITH SEIZURES (PDE); ALDH7A1 | |
|
266100
OMIM = Online Mendelian Inheritance of Men | |
|
3006 | |
| alpha-aminoadipic semialdehyde dehydrogenase | |
| 1.2.1.31 | |
| rare (1:20000 - 1:783000) autosomal recessive mutations in the ALDH7A1 gene | |
| Laboratory findings | alpha-Aminoadipic semialdehyde inc (urine) Pipecolic acid inc (cerebrospinal fluid) Pipecolic acid normal/inc (urine) Pipecolic acid inc (serum) Sulfocysteine normal (urine) L-Lactic acid normal/inc (plasma) 4-Aminobutyric acid inc (cerebrospinal fluid) 6-Oxo-pipecolate inc (plasma) 6-Oxo-pipecolate inc (urine) 6-Oxo-pipecolate inc (cerebrospinal fluid) alpha-Aminoadipic semialdehyde inc (urine) alpha-Aminoadipic semialdehyde inc (cerebrospinal fluid) D-Glucose dec (plasma) Glutamic acid normal/inc (cerebrospinal fluid) Glutamic acid decarboxylase () |
| Symptoms | abnormal movement corpus callosum, agenesis/hypoplasia developmental delay epilepsy hypoglycemia hypothermia hypotonia irritability low APGAR Score mental retardation MRI, brain, abnormalities [-] psychomotor retardation seizures seizures, myoclonic seizures, tonic clonic speech development, delayed, abnormal status epilepticus vomiting dystonia EEG abnormalities [-] encephalopathy hydrocephalus lactic acidosis microcephaly (<2 SD for age) onset, childhood onset, fetus onset, infancy onset, neonatal respiratory distress |