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Argininosuccinic aciduria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Argininosuccinic aciduria was described in 1958 as the first defect of the urea cycle [1]. The first patients recognized had chronic, more indolent disease where the major manifestations were nonspecific, sometimes mild or moderate mental impairment [2–4]. This may reflect the unique features of the hair in this disorder, which brought many of the early patients to attention with apparent alopecia. The disorder also presents, and as now recognized more frequently, in the classic neonatal hyperammonemic pattern of a typical urea cycle disease [5–10]. Sometimes these infants may be suspected clinically to be different from those with other urea cycle disorders because of the magnitude of the hepatomegaly.
Diseases of the Nervous System
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
In argininosuccinic aciduria, the defect is in the enzyme argininosuccinase localized in the liver, brain, and blood cells where only traces of argininosuccinase activity have been demonstrated. Large amounts of argininosuccinic acid accumulates in body fluids as a consequence of this lesion. The highest quantity is found in the cerebrospinal fluid and higher than in plasma. Massive amounts are excreted in the urine daily, comparable to the glomerular filtration rate. Beside the general neurological symptoms, this disease is characterized by ataxia, hepatomegaly, and brittle hair. An interesting observation indicates that thyroid hormones may be capable of inducing additional quantities of the deficient enzyme.
Amino acid disorders and urea cycle disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Like many inherited metabolic diseases, argininosuccinic aciduria may manifest itself at different ages and in different ways. This probably depends on whether the enzyme is completely or partially absent. In the severe form of ASA, babies show complete absence of the ASL enzyme and exhibit symptoms soon after birth. There is usually a symptom-free period of 24-48 hours with normal feeding, before the baby becomes lethargic, with poor feeding, vomiting, irritability and liver enlargement (hepatomegaly). These symptoms are similar to, and often mistaken for, those of infection. As the ammonia level rises, breathing problems (apnoea), seizures and coma may ensue, with swelling of the brain (cerebral oedema). If left untreated, this severe form is life-threatening. Even with appropriate treatment, the baby may suffer signiicant neurological impairment or may not survive.
Inherited hyperammonemias: a Contemporary view on pathogenesis and diagnosis
Published in Expert Opinion on Orphan Drugs, 2018
Evelina Maines, Giovanni Piccoli, Antonia Pascarella, Francesca Colucci, Alberto B. Burlina
Hyperammonemia due to defects in ammonia detoxification is usually differentiated in two types. Primary hyperammonemia is due to loss-of-function defects of any of the urea cycle enzymes. These comprise three mitochondrial enzymatic defects (carbamoylphosphate synthetase 1 deficiency [CPS1D, OMIM #237300], ornithine transcarbamylase deficiency [OTCD, OMIM #311250], N-acetylglutamate synthase deficiency [NAGSD, OMIM #237310]), three cytosolic enzymatic defects (citrullinemia type 1 or argininosuccinate synthetase deficiency [ASSD, OMIM #215700], argininosuccinic aciduria or argininosuccinate lyase deficiency [ASLD, OMIM #207900], arginase 1 deficiency or argininemia [ARG1D, OMIM #207800]), and two mitochondrial transport defects (hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [HHH, OMIM #238970]) and citrullinemia type 2 or citrin deficiency (Citrin-D, OMIM #605814 and #603471) [4,5].
Birth weight related essential, non-essential and conditionally essential amino acid blood concentrations in 12,000 breastfed full-term infants perinatally
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2020
Penelope D. Manta-Vogli, Kleopatra H. Schulpis, Yannis L. Loukas, Yannis Dotsikas
According to the literature, high concentrations of Orn in the blood are highly implicated with gyrate atrophy which is a serious neuro-degenerative inherited disease [29]. Additionally, elevated Cit levels appear in citrullinemia type I, argininosuccinic aciduria, and citrine deficiency, whereas, low serum citrulline concentration is associated with ornithine transcarbamylase (OTC) deficiency [34] and CPS I deficiency concomitant with hyperammonemia.