missed. ALA more closely mimics the clinicalseverity of the porphyria as it is believed to bethe putative toxin involved.
CLINICAL FEATURES ANDDIAGNOSIS
There are a myriad of clinical features withcentral nervous system, peripheral nerve, andautonomic nerve involvement. The acute attackis typically ushered in with abdominal pain andpsychiatric symptoms (anxiety, restlessness, andconfusion). A rapidly evolving, predominantlymotor axonal neuropathy then develops withascending weakness beginning in the legsand areflexia. Autonomic features may beprominent with tachycardia, constipation ordiarrhoea, vomiting, and gastroparesis. Theprincipal differential diagnoses at this stage areGuillain-Barré syndrome, acute motor axonalneuropathy, and poliomyelitis.
Respiratoryand cranial nerve involvement can occur. If unrecognised, seizures, hyponatraemia, andcoma may ensue. Severe weakness at this stagemay be confused with critical illness myopathyor neuropathy. Cerebrospinal fluid examination(characteristically normal), nerve conductionstudies, and EMG may be required.Clues to the condition include: unexplained
The pathway for the biosynthesis of heme. Ac, acetic -CH
C00-; ALAD, ALAdehydratase; ALAS, ALA synthase; COX,coproporphyrignogen oxidase; FECH,ferrochelatase; HMBS, HMB synthase;PPOX, protoporphyrinogen oxidase;Pr, propionic
; UROD,uroporphyrinogen decarboxylase; UROS,uroporphyrinogen III synthase; Vi, vinyle
, 5th Edition. Campbell
,© 2005 with permission from Elsevier.)