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Fatty Acid Oxidation Disorders
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Other

Diagnosis Type

What is your diagnosis?

Alpers’ Disease

ACAD9 Deficiency

Autosomal Dominante Optic Atrophy (ADOA)

Barth SyndromeA rare, genetic disorder of lipid metabolism that primarily affects males.

CACT Deficiency

CPEO

Complex I Deficiency

Complex II Deficiency

Complex III Deficiency

Complex IV Deficiency

Complex V Deficiency

CoQ10 Deficiency

CPT I Deficiency

CPT II Deficiency

Creatine Deficiency Syndrome

CUD/Primary Carnitine Deficiency

Friedreich’s AtaxiaFriedreichs Ataxia

GAII/MADD Deficiency

Kearns-Sayre Syndrome (KSS)

Lactic Acidosis

LCHAD Deficiency

Leigh Syndrome

Leukodystrophy

LHON

LHON Plus

Luft Disease

MCAD Deficiency

MCKAT Deficiency

MELAS

MEPAN

MERRF

MIRAS

MitochondrialRelated to the mitochondria. Cytophy

Mitochondrial DNA Depletion

Mitochondrial Encencephalopathy

Mitochondrial Myopathy

MNGIE

M/SCHAD Deficiency

MMDS

NARP

Pearson SyndromeA rare disease that targets the bone marrow and pancreas. Through dysfunction of cells in the bone marrow that produce white and red bloods cells along with platelets.

POLG Mutationsgenetic variant, genetic change

POLG 2

Primary Mitochondrial Myopathy

Pyruvate Carboxylase Deficiency

Pyruvate Dehydrogenase Deficiency

PDCD

SCAD Deficiency

Thymidine Kinase 2 Deficiency (TK2)

VLCAD Deficiency

Undiagnosed

Other

What is your child's diagnosis?

Alpers’ Disease

ACAD9 Deficiency

Autosomal Dominante Optic Atrophy (ADOA)

Barth Syndrome

CACT Deficiency

CPEO

Complex I Deficiency

Complex II Deficiency

Complex III Deficiency

Complex IV Deficiency

Complex V Deficiency

CoQ10 Deficiency

CPT I Deficiency

CPT II Deficiency

Creatine Deficiency Syndrome

CUD/Primary Carnitine Deficiency

Friedreich’s AtaxiaImpaired coordination of voluntary muscle movements. Manifestations can include, among others, slurred speech, poor balance, unsteady walking, falling, and involuntary eye movements (nystagmus). Usual

GAII/MADD Deficiency

Kearns-Sayre Syndrome (KSS)

Lactic Acidosis

LCHAD Deficiency

Leigh Syndrome

Leukodystrophy

LHON

LHON Plus

Luft Disease

MCAD Deficiency

MCKAT Deficiency

MELAS

MEPAN

MERRF

MIRAS

Mitochondrial Cytophy

Mitochondrial DNA Depletion

Mitochondrial Encencephalopathy

Mitochondrial Myopathy

MNGIE

M/SCHAD Deficiency

MMDS

NARP

Pearson Syndrome

POLG Mutations

POLG 2

Primary Mitochondrial Myopathy

Pyruvate Carboxylase Deficiency

Pyruvate Dehydrogenase Deficiency

PDCD

SCAD Deficiency

Thymidine Kinase 2 Deficiency (TK2)

VLCAD Deficiency

Undiagnosed

Other

What is your loved one's diagnosis?

Alpers’ Disease

ACAD9 Deficiency

Autosomal Dominante Optic Atrophy (ADOA)

Barth Syndrome

CACT Deficiency

CPEO

Complex I Deficiency

Complex II Deficiency

Complex III Deficiency

Complex IV Deficiency

Complex V Deficiency

CoQ10 Deficiency

CPT I Deficiency

CPT II Deficiency

Creatine Deficiency Syndrome

CUD/Primary Carnitine Deficiency

Friedreich’s Ataxia

GAII/MADD Deficiency

Kearns-Sayre Syndrome (KSS)

Lactic Acidosis

LCHAD Deficiency

Leigh Syndrome

Leukodystrophy

LHON

LHON Plus

Luft Disease

MCAD Deficiency

MCKAT Deficiency

MELAS

MEPAN

MERRF

MIRAS

Mitochondrial Cytophy

Mitochondrial DNA Depletion

Mitochondrial Encencephalopathy

Mitochondrial Myopathy

MNGIE

M/SCHAD Deficiency

MMDS

NARP

Pearson Syndrome

POLG Mutations

POLG 2

Primary Mitochondrial Myopathy

Pyruvate Carboxylase Deficiency

Pyruvate Dehydrogenase Deficiency

PDCD

SCAD Deficiency

Thymidine Kinase 2 Deficiency (TK2)

VLCAD Deficiency

Undiagnosed

Other

Is your diagnosis clinically or genetically confirmed by genetic testing and/or a muscle biopsy?

Genetically Confirmed (ie, genetic testing, whole genome sequencing)

Muscle Biopsy

Clinical Diagnosis

Uncertain

Is your loved one's diagnosis clinically or genetically confirmed by genetic testing and/or a muscle biopsy?

Genetically Confirmed (ie, genetic testing, whole genome sequencing)

Muscle Biopsy

Clinical Diagnosis

Uncertain

Is your child's diagnosis clinically or genetically confirmed by genetic testing and/or a muscle biopsy?

Genetically Confirmed (ie, genetic testing, whole genome sequencing)

Muscle Biopsy

Clinical Diagnosis

Uncertain

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