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Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA).

NM Beck, JP Johnston, KS Lemke… - Medicine and health, …, 2011 - ncbi.nlm.nih.gov
1. Med Health R I. 2011 May;94(5):121-3. Rhode Island metabolic newborn screening:
the effect of early identification. A case report of argininosuccinic aciduria (ASA). Beck
NM, Johnston JP, Lemke KS, Pogacar P, Phornphutkul C. ...

Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency)

P Singh, JS Goraya, A Ahluwalia… - Neurology, 2011 - AAN Enterprises
A 14-month-old boy presented with loss of develop- mental milestones and tonic spasms following
a diar- rheal illness. He was born to nonconsanguineous parents and had mild motor
delays. Examination was remarkable for macrocephaly, axial hypotonia, and asymmetric ...
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Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

JL Sloan, JJ Johnston, I Manoli, RJ Chandler… - Nature Genetics, 2011 - nature.com
We used exome sequencing to identify the genetic basis of combined malonic and methylmalonic
aciduria (CMAMMA). We sequenced the exome of an individual with CMAMMA and followed
up with sequencing of eight additional affected individuals (cases). This included one ...

Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

SW Sauer, S Opp, GF Hoffmann, DM Koeller… - Brain, 2011 - Oxford Univ Press
Glutaric aciduria type I, an inherited deficiency of glutaryl-coenzyme A dehydrogenase localized
in the final common catabolic pathway of l-lysine, l-hydroxylysine and l-tryptophan, leads to accumulation
of neurotoxic glutaric and 3-hydroxyglutaric acid, as well as non-toxic glutarylcarnitine. ...
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Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion

S Mercimek-Mahmutoglu, T Tucker… - Molecular Genetics and …, 2011 - Elsevier
We describe two siblings with 3-methylglutaconic aciduria type I with phenotypic
heterogeneity. The index case was a 14-year-old female with learning disability, attention
deficit-hyperactivity and early onset subclinical leukoencephalopathy. Her 9-year-old ...

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