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• Clinical FeatureGlutaric Aciduria Type 1– Macrocephalic at birth, preceding severe neurological crisis– Hypotonia, head-lag, irritability and jitteriness– Feeding problems– First febrile illness, or immunisation, leads to increased (butreversible) hypotonia– Neuroimaging reveals fronto-temporal atrophy and delayedmyelination– Subdural haemorrhaging common when starting to walk– Illness and fasting may precipitate neurological crises– Brain damage results in loss of motor and posture, but intelligenceis preserved – damage not reversible at this stage
Glutaric Aciduria Type 1Tryptophanseveral stepsHydroxylysinePhosphohydroxylysineLysine2-Aminoadipic-4-semialdehydesynthaseSaccharopine2-Aminoadipic-4-semialdehydesynthase2-Aminoadipic-4-semialdehyde2-Aminomuconic acid2-Aminoadipic acid2-Aminoadipate aminotransferase/2-oxoadipate dehydrogenaseGLUTARIC ACIDURIA2-Oxoadipic acid2-Aminoadipate aminotransferase/2-oxoadipate dehydrogenaseGlutaryl-CoAGlutaconyl-CoAGlutaryl-CoA dehydrogenase/glutaconyl-CoA dehydrogenaseGlutaryl-CoA dehydrogenase/glutaconyl-CoA dehydrogenase
Page 1 and 2: Acylcarnitines And InheritedMetabol
Page 3 and 4: CarnitineCOO -HO• Essential compo
Page 5 and 6: Catabolism: A Bird’s-eye ViewProt
Page 7 and 8: The Carnitine CycleFree carnitineFa
Page 9 and 10: Acyl Carnitines in Fatty AcidOxidat
Page 11 and 12: Blood spotsPlasma (and other fluids
Page 13 and 14: MS/MS 2• Parents of m/z 85 - acyl
Page 15 and 16: Normal Acylcarnitine Pattern16Apr00
Page 17 and 18: Why Numbers?• Acylcarnitines are
Page 20 and 21: CPT-I Deficiency 1• Blocked forma
Page 23: CPT-II Deficiency• Defect in rege
Page 29: Isovaleric AciduriaIM D 252 1 (1.02
Page 33 and 34: Worked Example 130Jan003IMD025 1 (1
Page 35 and 36: Worked Example 2010202-15201Feb02-1
Page 37 and 38: • Presentation- Very heterogeneou
Page 39 and 40: Medium Chain Acyl-CoA Dehydrogenase
Page 41 and 42: Worked Example 421Feb003IMD034 1 (1
Page 43 and 44: • Variable presentationPost-Morte
Page 45 and 46: Diagnosis?302459260263347456
Page 47 and 48: Why?• PAR 85 experiment not speci
Page 49 and 50: IsomersH 3 CH 2 C CH 2H 2 C CH 2H 3
Page 51 and 52: • Non-derivitisationOther Conside

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