1984
DOI: 10.1016/s0022-3476(84)80520-x
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Congenital anomalies in glutaric aciduria type 2

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Cited by 10 publications
(3 citation statements)
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“…GA II patients may show facial dysmorphism, muscular defects of the abdominal wall, and anomalies of external genitalia. In some cases, however, congenital anomalies were not seen [5,25,26].…”
Section: Discussionmentioning
confidence: 99%
“…GA II patients may show facial dysmorphism, muscular defects of the abdominal wall, and anomalies of external genitalia. In some cases, however, congenital anomalies were not seen [5,25,26].…”
Section: Discussionmentioning
confidence: 99%
“…Expanded newborn screening has facilitated the detection of neonatal CPT II deficiency that, given its presentation, may not raise a high index of suspicion for metabolic diseases (Albers et al 2001). Multiple acyl-CoA dehydrogenase deficiency (or glutaric aciduria type II) can also present with a malformation phenotype including polycystic kidneys and cerebral cysts and dysplasia (Mitchell et al 1984).…”
Section: Fatty Acid Oxidation Disordersmentioning
confidence: 99%
“…Glutaric aciduria type II is a defect of the mitochondrial beta-oxidation. It can appear in two different clinical forms: a neonatal-onset form (with congenital anomalies or without congenital anomalies) and a late-onset form (3)(4). The neonatal-onset form presents with hypotonia, seizures, severe hypoglycemia and metabolic acidosis, leading to rapid death.…”
mentioning
confidence: 99%