IEM-SMALL MOLECULE DISEASES

PRESENT ACUTELY

ACUTE ENCEPALOPATHY

PKU

TYROSINEMIA

HOMOCYSTINURIA-NO AC PRESENTN-MARFANOID PRESENTN

MSUD-SMELL IN URINE AND CERUMEN-MAY LIVER TX


THEN OA-

IVA-SWEATY FEET SMELL

PA-

MMA-


NEXT UCD-PLASMA AMINO ACIDS ABN

OTC DEFY-MAY LIVER TX

NITROGEN SCAVENGING THERAPY


NEXT FAO -DX BY URINE ORG ACIDS

MCAD

LCAD

VLCAD


NEXT

GALACTOSEMIA

HFI


NEXT PHOSPHORYLATION DIS

MELAAS-CHEMICAL STROKES


NEXT PURINE/PYRIMIDINE

LESCH NYHAN


NEXT PYRUVATE METAB DIS

PYRUVATE DEHYDROGENASE DEFY- LACTIC ACIDOSIS