| S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (SAHH) | |
| AHCY; HYPERMETHIONINEMIA, FAMILIAL | |
|
613752
OMIM = Online Mendelian Inheritance of Men | |
|
88618 | |
| Adenosylhomocysteinase; S-adenosyl-L-homocysteine hydrolase | |
| 3.3.1.1 | |
| very rare (9 cases) autosomal recessive mutation in the AHCY gene | |
| Laboratory findings | Homocysteine inc (plasma) Methionine inc (plasma) S-Adenosylhomocysteine inc (plasma) Albumin dec (plasma) Creatine kinase inc (plasma) D-Glucose normal/dec (serum) Methionine inc (urine) Methionine inc (cerebrospinal fluid) S-Adenosylhomocysteine inc (urine) S-Adenosylhomocysteine hydrolase dec (liver) S-Adenosylhomocysteine hydrolase dec (erythrocytes) S-Adenosylmethionine inc (plasma) Transaminases (ASAT/ALAT) normal/inc (serum) |
| Symptoms | myopathy behavior, abnormal or bizarre, confusion behavior, aggressive cardiac involvement, cardiac defects cardiomyopathy cerebral atrophy cholestasis cognitive impairment CT, brain, abnormalities [-] developmental delay dysmorphism failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hair, abnormal (thin, brittle, fine) hepatomegaly (large liver) hydrops fetalis hypoglycemia hypotonia jaundice liver involvement or dysfunction mental retardation motor retardation MRI, brain, white matter abnormalities [-] muscle weakness onset, adulthood onset, childhood onset, infancy onset, neonatal psychomotor retardation seizures strabismus |