On-Line Literature

PND Association

Future Neurology

September 2006 Vol. 1 No. 5

Contents

Inherited disorders of neurotransmitters
Guest Editor: Phillip L Pearl

Editorial
589 Inherited neurotransmitter disorders: a rapidly enlarging field of neurometabolismin children and adults

PL Pearl
 

Special Report
593 Cerebrospinal fluid analysis in the diagnosis of treatable inherited disordersof neurotransmitter metabolism

K Hyland
 

Reviews
605 Inherited disorders of amine biosynthesis
KJ Swoboda
 

615 Inborn errors affecting vitamin B6 metabolism
R Surtees, P Mills & P Clayton

621 Clinical variability in glycine encephalopathy

JB Hennermann

631 Inherited disorders of GABA metabolism
PL Pearl, TR Hartka, JL Cabalza, J Taylor & M Gibson

637 Are cerebral creatine deficiency syndromes on the radar screen?
LS Almeida, EH Rosenberg, NM Verhoeven, C Jakobs & GS Salomons

Clinical Focus
651 Biogenic amines and pterins in cerebrospinal fluid: some pitfalls with interpretation
B Assmann

Reviews (continued)
659 Metabolic brain imaging by magnetic resonance
EJ Novotny Jr

665 Murine models of inherited monoaminergic and GABAergic neurotransmitter disorders
B Thöny & KM Gibson

677 Applying advances in neurogenetics to medical practice
A Gropman

Tyrsosine Hydroxylase Deficiency (TH)

For a complete list of articles on Tyrsosine Hydroxylase Deficiency, please refer to the Online Mendelian Inheritance in Man (OMIM) which is linked below. Before clicking, you will need to enter the following information at the OMIM site:

Key Words: 'Tyrosine Hydroxylase'

Access Listing: 191290

http://www.ncbi.nlm.nih.gov/omim

Brautigam C., Wevers R., Jansen R., Smeitink J., De Rijk-Van Andel J., Gabreels F., Hoffmann G.,

Clinical Chemistry, 1998 44:9 1897-1904

Aromatic L-Amino Acid Decarboxylase Deficiency (AADC)

For a complete list of articles on Aromatic L-Amino Acid Decarboxylase Deficiency, please refer to the Online Mendelian Inheritance in Man (OMIM) which is linked below. Before clicking, you will need to enter the following information at the OMIM site:

Key Words: 'Aromatic L-Amino Decarboxylase'

Access Listing: 107930

http://www.ncbi.nlm.nih.gov/omim<

"Aromatic L-Amino Acid Decarboxylase Deficiency: Clinical Features, Diagnosis, and Treatment of a New Inborn Error of Neurotransmitter Amine Synthesis".

Hyland K., Surtees R., Rodeck C., Clayton P., Neurology, 1992:42:1980-1987.

"Clinical and Therapeutic Observations in Aromatic L- Amino Acid Decarboxylase Deficiency".

Swoboda K.J., Hyland K., Godstein D., Kuban K.C.K., Arnold L.A., Holmes C.S., Levy H.L.,

Neurology, 1999: 53:1205-1211.

Guanosine Triphosphate Cyclohydrolase I Deficiency (GTPCH)

For a complete list of articles on Guanosine Triphosphate Cyclohydrolase I Deficiency (GTPCH) please refer to the Online Mendelian Inheritance in Man (OMIM) which is linked below. Before clicking, you will need to enter the following information at the OMIM site:

Key Words: 'Cyclohydrolase I Deficiency'

Access Listing: 233910

http://www.ncbi.nlm.nih.gov/omim

Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)

For a complete list of articles on SSADH, please refer to the Online Mendelian Inheritance in Man (OMIM) which is linked below. Before clicking, you will need to enter the following information at the OMIM site:

Key Words: 'Succinic Semialdehyde Dehydrogenase Deficiency'

Access Listing: 271980

http://www.ncbi.nlm.nih.gov/omim