Lab values for Metabolic conditions

High Phe Low Tyrosine

PKU

sometimes High Phe high serum prolactin

Biopterin

high succinylactetone,high fumerylacetone

Tyrosinemia type 1

High tyrosine

Tyrosinemia type 2

High homogenistic acid

Alkaptonuria

high valine, leucine, isoleucine, and alloisoleucine

MSUD

high glutamine low citrulline

CPS1/NAGS

high glutamine low citrulline high urine orotic acid

OTC

very high citrulline, high glutamine, high to normal orotic acid

citrullinemia type 1 (ASSD)

High glutamine high orotic acid high citrulline high ASA (in both plasma and urine)

ASL

high arginine

Arginase deficiency

high glycine

NKH

Low serine in CSF

Neu-Laxova

high Met and high homocysteine

Homocystinuria

High Met

MAT

high homocysteine low met

MTHFR

very high homocysteine and low Met

CBL E and G

HS DS alpha L iduronidase

MPS1

HS DS I2S

MPS2

HS

MPS3

KS CS

MPSIV

DS C4S

MPSVI

HS DS C6S C4S

MPSVII

transferrin cerebellar hypoplasia, fat pads, inverted nipples

PMM2

transferrin transferrin liver issues, fat pads, inverted nipples

MPI

transferrin neuro, eye, coagulopathy

ALDG6

o-mannosyltransferase

Walker Warburg Sx

High C5 isovaryl

IVA

High C5-DC

GA1

High C3

PA/MMA

High C5-OH

3MCC

Low C0

Carnintine def

High C0

CPT1a

High C16, C18,

C18:1, C18:2, same as CACT

CPT2

High C16, C18, C18:1, C18:2, Low C0

CACT

High C8

(C6<C8>C10,C10:1

MCAD

High C16OH (C14OH, C18OH,

C18:1OH

LCAD/TFP

High C4, C5, C8 (C6<C8<C10, C12, C14, C14:1)

MADD

High C14:1, C14 (C14:1>C14, C16,

C18, C18:1

VLCAD